ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.
Dravet syndrome
developmental and epileptic encephalopathy
epilepsy of infancy with migrating focal seizures
infantile spasms
self-limited epilepsies
Journal
Epilepsia
ISSN: 1528-1167
Titre abrégé: Epilepsia
Pays: United States
ID NLM: 2983306R
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
revised:
20
03
2022
received:
23
04
2021
accepted:
21
03
2022
pubmed:
4
5
2022
medline:
7
6
2022
entrez:
3
5
2022
Statut:
ppublish
Résumé
The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification and definition of epilepsy syndromes in the neonate and infant with seizure onset up to 2 years of age. The incidence of epilepsy is high in this age group and epilepsy is frequently associated with significant comorbidities and mortality. The licensing of syndrome specific antiseizure medications following randomized controlled trials and the development of precision, gene-related therapies are two of the drivers defining the electroclinical phenotypes of syndromes with onset in infancy. The principal aim of this proposal, consistent with the 2017 ILAE Classification of the Epilepsies, is to support epilepsy diagnosis and emphasize the importance of classifying epilepsy in an individual both by syndrome and etiology. For each syndrome, we report epidemiology, clinical course, seizure types, electroencephalography (EEG), neuroimaging, genetics, and differential diagnosis. Syndromes are separated into self-limited syndromes, where there is likely to be spontaneous remission and developmental and epileptic encephalopathies, diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. The emerging class of etiology-specific epilepsy syndromes, where there is a specific etiology for the epilepsy that is associated with a clearly defined, relatively uniform, and distinct clinical phenotype in most affected individuals as well as consistent EEG, neuroimaging, and/or genetic correlates, is presented. The number of etiology-defined syndromes will continue to increase, and these newly described syndromes will in time be incorporated into this classification. The tables summarize mandatory features, cautionary alerts, and exclusionary features for the common syndromes. Guidance is given on the criteria for syndrome diagnosis in resource-limited regions where laboratory confirmation, including EEG, MRI, and genetic testing, might not be available.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1349-1397Informations de copyright
© 2022 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.
Références
Wirrell E, Nabbout R, Scheffer IE, Alsaadi T, Bogacz A, French JA, et al. Methodology for classification and definition of epilepsy syndromes with list of syndromes: report of the ILAE Task Force on Nosology and Definitions. Epilepsia 2022;in press.
Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58:512-21.
Pressler RM, Cilio MR, Mizrahi EM, Moshe SL, Nunes ML, Plouin P, et al. The ILAE classification of seizures and the epilepsies: modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures. Epilepsia. 2021;62:615-28.
Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for classification of epilepsies and epileptic syndromes. Epilepsia. 1985;26:268-78.
Hauser WA, Annegers JF, Kurland LT. Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984. Epilepsia. 1993;34:453-68.
Wirrell EC, Grossardt BR, Wong-Kisiel LC, Nickels KC. Incidence and classification of new-onset epilepsy and epilepsy syndromes in children in Olmsted County, Minnesota from 1980 to 2004: a population-based study. Epilepsy Res. 2011;95:110-8.
Eltze CM, Chong WK, Cox T, Whitney A, Cortina-Borja M, Chin RF, et al. A population-based study of newly diagnosed epilepsy in infants. Epilepsia. 2013;54:437-45.
Camfield CS, Camfield PR, Gordon K, Wirrell E, Dooley JM. Incidence of epilepsy in childhood and adolescence: a population-based study in Nova Scotia from 1977 to 1985. Epilepsia. 1996;37:19-23.
Symonds JD, Elliot KS, Shetty J, Armstrong M, Brunklaus A, Cutcutache I, et al. Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain. 2021;144:2879-91.
Senanayake N, Roman GC. Epidemiology of epilepsy in developing countries. Bull World Health Organ. 1993;71:247-58.
Singh A, Trevick S. The epidemiology of global epilepsy. Neurol Clin. 2016;34:837-47.
Newton CR, Garcia HH. Epilepsy in poor regions of the world. Lancet. 2012;380:1193-201.
Berg AT, Langfitt JT, Testa FM, Levy SR, DiMario F, Westerveld M, et al. Global cognitive function in children with epilepsy: a community-based study. Epilepsia. 2008;49:608-14.
Wirrell E, Wong-Kisiel L, Mandrekar J, Nickels K. Predictors and course of medically intractable epilepsy in young children presenting before 36 months of age: a retrospective, population-based study. Epilepsia. 2012;53:1563-9.
Moseley BD, Wirrell EC, Wong-Kisiel LC, Nickels K. Early onset epilepsy is associated with increased mortality: a population-based study. Epilepsy Res. 2013;105:410-4.
Berg AT, Zelko FA, Levy SR, Testa FM. Age at onset of epilepsy, pharmacoresistance, and cognitive outcomes: a prospective cohort study. Neurology. 2012;79:1384-91.
Wilson SJ, Micallef S, Henderson A, Rayner G, Wrennall JA, Spooner C, et al. Developmental outcomes of childhood-onset temporal lobe epilepsy: a community-based study. Epilepsia. 2012;53:1587-96.
Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, et al. Key clinical features to identify girls with CDKL5 mutations. Brain. 2008;131:2647-61.
Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, et al. Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain. 2017;140:306-18.
Rett A, Teubel R. Neugeborenenkraempfe im Rahmen einer epileptisch belasteten Familie. Wien Klin Wschr. 1964;76:609-13.
Trivisano M, Pietrafusa N, Terracciano A, Marini C, Mei D, Darra F, et al. Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: a multicenter study. Epilepsia. 2018;59:2260-71.
Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, et al. A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. Mol Psychiatry. 2019;24:241-51.
Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, et al. Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain. 2008;131:918-27.
Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, et al. STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy. Neurology. 2016;86:954-62.
Matricardi S, Darra F, Spalice A, Basti C, Fontana E, Dalla Bernardina B, et al. Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15). Acta Neurol Scand. 2018;137:575-81.
Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, et al. The severe epilepsy syndromes of infancy: a population-based study. Epilepsia. 2021;62:358-70.
Bureau M, Genton P, Dravet C, Delgado Escueta AV, Guerrini R, Tassinari CA, et al. editors. Epileptic Syndromes in Infancy, Childhood and Adolescence. 6th, London: John Libbey Eurotext; 2019.
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde BW, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010;51:676-85.
Ronen GM, Rosales TO, Connolly M, Anderson VE, Leppert M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology. 1993;43:1355-60.
Grinton BE, Heron SE, Pelekanos JT, Zuberi SM, Kivity S, Afawi Z, et al. Familial neonatal seizures in 36 families: clinical and genetic features correlate with outcome. Epilepsia. 2015;56:1071-80.
Shevell MI, Sinclair DB, Metrakos K. Benign familial neonatal seizures: clinical and electroencephalographic characteristics. Pediatr Neurol. 1986;2:272-5.
Maihara T, Tsuji M, Higuchi Y, Hattori H. Benign familial neonatal convulsions followed by benign epilepsy with centrotemporal spikes in two siblings. Epilepsia. 1999;40:110-3.
Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK. Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proc Natl Acad Sci USA. 2001;98:12272-7.
Sands TT, Balestri M, Bellini G, Mulkey SB, Danhaive O, Bakken EH, et al. Rapid and safe response to low-dose carbamazepine in neonatal epilepsy. Epilepsia. 2016;57:2019-30.
Cornet MC, Morabito V, Lederer D, Glass HC, Ferrao Santos S, Numis AL, et al. Neonatal presentation of genetic epilepsies: early differentiation from acute provoked seizures. Epilepsia. 2021;62:1907-20.
Dehan M, Quilleron D, Navelet Y, D'Allest AM, Vial M, Retbi JM, et al. Les convulsions du cinquieme jour de vie: un nouveau syndrome? Arch Fr Ped. 1977;34:730-42.
Hirsch E, Velez A, Sellal F, Maton B, Grinspan A, Malafosse A, et al. Electroclinical signs of benign neonatal familial convulsions. Ann Neurol. 1993;34:835-41.
Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, et al. A potassium channel mutation in neonatal human epilepsy. Science. 1998;279:403-6.
Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet. 1998;18:53-5.
Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet. 1998;18:25-9.
Symonds JD, Zuberi SM, Stewart K, McLellan A, O'Regan M, MacLeod S, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain. 2019;142:2303-18.
Heron SE, Cox K, Grinton BE, Zuberi SM, Kivity S, Afawi Z, et al. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. J Med Genet. 2007;44:791-6.
Kaplan RE, Lacey DJ. Benign familial neonatal-infantile seizures. Am J Med Genet. 1983;16:595-9.
Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet. 2002;360:851-2.
Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, et al. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia. 2013;54:425-36.
Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, et al. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol. 2004;55:550-7.
Herlenius E, Heron SE, Grinton BE, Keay D, Scheffer IE, Mulley JC, et al. SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia. 2007;48:1138-42.
Vigevano F, Fusco L, Di Capua M, Ricci S, Sebastianelli R, Lucchini P. Benign infantile familial convulsions. Eur J Pediatr. 1992;151:608-12.
Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet. 1997;61:889-98.
Ramos-Lizana J, Martinez-Espinosa G, Rodriguez-Lucenilla MI, Aguirre-Rodriguez J, Aguilera-Lopez P. [Frequency, semiology and prognosis of benign infantile epilepsy] Rev Neurol. 2018;66:254-60.
Okumura A, Hayakawa F, Kuno K, Watanabe K. Benign partial epilepsy in infancy. Arch Dis Child. 1996;74:19-21.
Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, et al. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology. 2012;79:2097-103.
Heron SE, Dibbens LM. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. J Med Genet. 2013;50:133-9.
Caraballo RH, Cersosimo RO, Espeche A, Fejerman N. Benign familial and non-familial infantile seizures: a study of 64 patients. Epileptic Disord. 2003;5:45-9.
Vigevano F. Benign familial infantile seizures. Brain Dev. 2005;27:172-7.
Bureau M, Cokar O, Maton B, Genton P, Dravet C. Sleep-related, low voltage Rolandic and vertex spikes: an EEG marker of benignity in infancy-onset focal epilepsies. Epileptic Disord. 2002;4:15-22.
Flesler S, Sakr D, Cersosimo R, Caraballo R. Benign infantile focal epilepsy with midline spikes and waves during sleep: a new epileptic syndrome or a variant of benign focal epilepsy? Epileptic Disord. 2010;12:205-11.
Capovilla G, Beccaria F, Montagnini A. ‘Benign focal epilepsy in infancy with vertex spikes and waves during sleep'. Delineation of the syndrome and recalling as ‘benign infantile focal epilepsy with midline spikes and waves during sleep’ (BIMSE). Brain Dev. 2006;28:85-91.
Gardella E, Becker F, Moller RS, Schubert J, Lemke JR, Larsen LH, et al. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016;79:428-36.
Singh R, Scheffer IE, Crossland K, Berkovic SF. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol. 1999;45:75-81.
Singh R, Andermann E, Whitehouse WP, Harvey AS, Keene DL, Seni MH, et al. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia. 2001;42:837-44.
Zhang YH, Burgess R, Malone JP, Glubb GC, Helbig KL, Vadlamudi L, et al. Genetic epilepsy with febrile seizures plus: refining the spectrum. Neurology. 2017;89:1210-9.
Scheffer IE, Harkin LA, Grinton BE, Dibbens LM, Turner SJ, Zielinski MA, et al. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain. 2007;130:100-9.
Myers KA, Burgess R, Afawi Z, Damiano JA, Berkovic SF, Hildebrand MS, et al. De novo SCN1A pathogenic variants in the GEFS+ spectrum: not always a familial syndrome. Epilepsia. 2017;58:e26-30.
Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain. 1997;120(Pt 3):479-90.
Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, et al. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Epilepsia. 2004;45:149-58.
Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet. 1998;19:366-70.
Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+. Nat Genet. 2000;24:343-5.
Myers KA, Scheffer IE, Berkovic SF, Commission IG. Genetic literacy series: genetic epilepsy with febrile seizures plus. Epileptic Disord. 2018;20:232-8.
Wolking S, May P, Mei D, Moller RS, Balestrini S, Helbig KL, et al. Clinical spectrum of STX1B-related epileptic disorders. Neurology. 2019;92:e1238-49.
Verrotti A, Matricardi S, Pavone P, Marino R, Curatolo P. Reflex myoclonic epilepsy in infancy: a critical review. Epileptic Disord. 2013;15:114-22.
Auvin S, Pandit F, De Bellecize J, Badinand N, Isnard H, Motte J, et al. Benign myoclonic epilepsy in infants: electroclinical features and long-term follow-up of 34 patients. Epilepsia. 2006;47:387-93.
Dravet C, Bureau M, Genton P. Benign myoclonic epilepsy of infancy: electroclinical symptomatology and differential diagnosis from the other types of generalized epilepsy of infancy. Epilepsy Res Suppl. 1992;6:131-5.
Zuberi SM, O'Regan ME. Developmental outcome in benign myoclonic epilepsy in infancy and reflex myoclonic epilepsy in infancy: a literature review and six new cases. Epilepsy Res. 2006;70(Suppl 1):S110-5.
Mangano S, Fontana A, Cusumano L. Benign myoclonic epilepsy in infancy: neuropsychological and behavioural outcome. Brain Dev. 2005;27:218-23.
Rossi PG, Parmeggiani A, Posar A, Santi A, Santucci M. Benign myoclonic epilepsy: long-term follow-up of 11 new cases. Brain Dev. 1997;19:473-9.
Dravet C. [The behavioral disorders in epilepsy]. Rev Neurol (Paris) 2002;158:4S33-38.
Todt H, Muller D. The therapy of benign myoclonic epilepsy in infants. Epilepsy Res Suppl. 1992;6:137-9.
Aicardi J, Ohtahara S. Severe neonatal epilepsies with suppression burst. In: Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence, 2nd edn. John Libbey; 2005:13-22.
Yamamoto H, Okumura A, Fukuda M. Epilepsies and epileptic syndromes starting in the neonatal period. Brain Dev. 2011;33:213-20.
Ohtahara S, Ishida T, Oka E. On the specific age-dependent epileptic syndromes: the early infantile epileptic encephalopathy with suppression-burst. No to Hattatsu. 1976;8:270-80.
Lombroso CT. Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. J Clin Neurophysiol. 1990;7:380-408.
Murakami N, Ohtsuka Y, Ohtahara S. Early infantile epileptic syndromes with suppression-bursts: early myoclonic encephalopathy vs. Ohtahara syndrome. Jpn J Psychiatry Neurol. 1993;47:197-200.
Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, et al. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017;81:419-29.
Djukic A, Lado FA, Shinnar S, Moshe SL. Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? Epilepsy Res. 2006;70(Suppl 1):S68-76.
Pearl PL. Amenable treatable severe pediatric epilepsies. Semin Pediatr Neurol. 2016;23:158-66.
Fusco L, Pachatz C, Di Capua M, Vigevano F. Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). Brain Dev. 2001;23:708-14.
Pisano T, Numis AL, Heavin SB, Weckhuysen S, Angriman M, Suls A, et al. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia. 2015;56:685-91.
Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, et al. SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015;85:958-66.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. 2017;140:1316-36.
Mills PB, Surtees RA, Champion MP, Beesley CE, Dalton N, Scambler PJ, et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum Mol Genet. 2005;14:1077-86.
Radaelli G, de Souza SF, Borelli WV, Pisani L, Nunes ML, Scorza FA, et al. Causes of mortality in early infantile epileptic encephalopathy: a systematic review. Epilepsy Behav. 2018;85:32-6.
Allen NM, Mannion M, Conroy J, Lynch SA, Shahwan A, Lynch B, et al. The variable phenotypes of KCNQ-related epilepsy. Epilepsia. 2014;55:e99-105.
Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Moller RS, et al. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013;81:1697-703.
Serino D, Specchio N, Pontrelli G, Vigevano F, Fusco L. Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data. Epileptic Disord. 2013;15:158-65.
Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia. 2013;54:1282-7.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012;71:15-25.
Numis AL, Angriman M, Sullivan JE, Lewis AJ, Striano P, Nabbout R, et al. KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. Neurology. 2014;82:368-70.
Zerem A, Lev D, Blumkin L, Goldberg-Stern H, Michaeli-Yossef Y, Halevy A, et al. Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings. Eur J Paediatr Neurol. 2014;18:567-71.
Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, et al. The phenotype of SCN8A developmental and epileptic encephalopathy. Neurology. 2018;91:e1112-24.
Vatta M, Tennison MB, Aylsworth AS, Turcott CM, Guerra MP, Eng CM, et al. A novel STXBP1 mutation causes focal seizures with neonatal onset. J Child Neurol. 2012;27:811-4.
Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, et al. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Epilepsia. 2011;52:1828-34.
El Kosseifi C, Cornet MC, Cilio MR. Neonatal developmental and epileptic encephalopathies. Semin Pediatr Neurol. 2019;32:100770.
Chitre M, Nahorski MS, Stouffer K, Dunning-Davies B, Houston H, Wakeling EL, et al. PEHO syndrome: the endpoint of different genetic epilepsies. J Med Genet. 2018;55:803-13.
Coppola G, Plouin P, Chiron C, Robain O, Dulac O. Migrating partial seizures in infancy: a malignant disorder with developmental arrest. Epilepsia. 1995;36:1017-24.
Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012;44:1255-9.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, et al. The genetic landscape of epilepsy of infancy with migrating focal seizures. Ann Neurol. 2019;86:821-31.
Coppola G. Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia. 2009;50(Suppl 5):49-51.
McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS, et al. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain. 2013;136:1578-91.
Kuchenbuch M, Barcia G, Chemaly N, Carme E, Roubertie A, Gibaud M, et al. KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP. Brain. 2019;142:2996-3008.
Marsh E, Melamed SE, Barron T, Clancy RR. Migrating partial seizures in infancy: expanding the phenotype of a rare seizure syndrome. Epilepsia. 2005;46:568-72.
Caraballo RH, Fontana E, Darra F, Cassar L, Negrini F, Fiorini E, et al. Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients. J Child Neurol. 2008;23:497-506.
Kuchenbuch M, Benquet P, Kaminska A, Roubertie A, Carme E, de Saint MA, et al. Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures. Epilepsia. 2019;60:20-32.
Jocic-Jakubi B, Lagae L. Malignant migrating partial seizures in Aicardi syndrome. Dev Med Child Neurol. 2008;50:790-2.
Lee EH, Yum MS, Jeong MH, Lee KY, Ko TS. A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. Brain Dev. 2012;34:768-72.
Selioutski O, Seltzer LE, Burchfiel J, Paciorkowski AR, Erba G. Characteristic features of the interictal EEG background in 2 patients with malignant migrating partial epilepsy in infancy. J Clin Neurophysiol. 2015;32:e23-9.
Moller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, et al. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia. 2015;56:e114-20.
Barcia G, Chemaly N, Kuchenbuch M, Eisermann M, Gobin-Limballe S, Ciorna V, et al. Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability. Neurol Genet. 2019;5:e363.
Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, et al. De novo KCNT1 mutations in early-onset epileptic encephalopathy. Epilepsia. 2015;56:e121-8.
Barba C, Darra F, Cusmai R, Procopio E, Dionisi Vici C, Keldermans L, et al. Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. Dev Med Child Neurol. 2016;58:1085-91.
Fukuyama Y. History of clinical identification of West syndrome - in quest after the classic. Brain Dev. 2001;23:779-87.
Lux AL, Osborne JP. A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group. Epilepsia. 2004;45:1416-28.
O'Callaghan FJ, Lux AL, Darke K, Edwards SW, Hancock E, Johnson AL, et al. The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: evidence from the United Kingdom Infantile Spasms Study. Epilepsia. 2011;52:1359-64.
Ohtahara S, Yamatogi Y. Epileptic encephalopathies in early infancy with suppression-burst. J Clin Neurophysiol. 2003;20:398-407.
Riikonen R. Epidemiological data of West syndrome in Finland. Brain Dev. 2001;23:539-41.
Pavone P, Striano P, Falsaperla R, Pavone L, Ruggieri M. Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013. Brain Dev. 2014;36:739-51.
Cowan LD, Hudson LS. The epidemiology and natural history of infantile spasms. J Child Neurol. 1991;6:355-64.
Gastaut H, Roger J, Soulayrol R, Saint-Jean M, Tassinari CA, Regis H, et al. [Epileptic encephalopathy of children with diffuse slow spikes and waves (alias "petit mal variant") or Lennox syndrome]. Ann Pediatr (Paris). 1966;13:489-99.
Trevathan E, Murphy CC, Yeargin-Allsopp M. Prevalence and descriptive epidemiology of Lennox-Gastaut syndrome among Atlanta children. Epilepsia. 1997;38:1283-8.
Ohtahara S, Yamatoki Y, Ohtsuka Y, Ok E, Ishida T. Prognosis of West syndrome with special reference to Lennox syndrome: a developmental study. In: Wada JA, Penry JK, editors. Advances in epileptology: the Xth Epilepsy International Sympsium. New York: Raven Press; 1980. p. 149-54.
Riikonen R. A long-term follow-up study of 214 children with the syndrome of infantile spasms. Neuropediatrics. 1982;13:14-23.
Heiskala H. Community-based study of Lennox-Gastaut syndrome. Epilepsia. 1997;38:526-31.
Rantala H, Putkonen T. Occurrence, outcome, and prognostic factors of infantile spasms and Lennox-Gastaut syndrome. Epilepsia. 1999;40:286-9.
Lugaresi E, Pazzaglia P, Tassinari CA. Evolution and prognosis of epilepsies. Colloque de Marseille a Venise. XIXe Réunion Européenne d'Enseignement Electroencéphalographique, Colloque de Marseille à Venise, 5-8 Octobre 1972, Bologna, Italy: Aulo Gaggi Publisher; 1972. p. 244.
Markand ON. Lennox-Gastaut syndrome (childhood epileptic encephalopathy). J Clin Neurophysiol. 2003;20:426-41.
Fejerman N & Medina C Convulsiones en la infancia. Diagnostico y tratamiento. 2d edition, Buenos Aires, Argentina: Editorial El Ateneo; 1986.
Fusco L, Vigevano F. Ictal clinical electroencephalographic findings of spasms in West syndrome. Epilepsia. 1993;34:671-8.
Osborne JP, Lux AL, Edwards SW, Hancock E, Johnson AL, Kennedy CR, et al. The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification. Epilepsia. 2010;51:2168-74.
Wirrell EC, Laux L, Donner E, Jette N, Knupp K, Meskis MA, et al. Optimizing the diagnosis and management of dravet syndrome: recommendations from a North American Consensus Panel. Pediatr Neurol. 2017;68:18-34.e3.
Saltik S, Kocer N, Dervent A. Magnetic resonance imaging findings in infantile spasms: etiologic and pathophysiologic aspects. J Child Neurol. 2003;18:241-6.
Poulat AL, Lesca G, Sanlaville D, Blanchard G, Lion-Francois L, Rougeot C, et al. A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology. Eur J Paediatr Neurol. 2014;18:176-82.
Aydinli N, Caliskan M, Ozmen M, Tonguc E. Neuroradiologic aspects of West syndrome. Pediatr Neurol. 1998;19:211-6.
Chugani HT, Ilyas M, Kumar A, Juhasz C, Kupsky WJ, Sood S, et al. Surgical treatment for refractory epileptic spasms: the Detroit series. Epilepsia. 2015;56:1941-9.
Lam J, Tomaszewski P, Gilbert G, Moreau JT, Guiot MC, Albrecht S, et al. The utility of arterial spin labeling in the presurgical evaluation of poorly defined focal epilepsy in children. J Neurosurg Pediatr. 2020;27:243-52.
Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, et al. Infantile spasms of unknown cause: predictors of outcome and genotype-phenotype correlation. Pediatr Neurol. 2018;87:48-56.
Ko A, Youn SE, Kim SH, Lee JS, Kim S, Choi JR, et al. Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy. Epilepsy Res. 2018;141:48-55.
Helbig KL, Farwell Hagman KD, Shinde DN, Mroske C, Powis Z, Li S, et al. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016;18:898-905.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, et al. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021;44:178-92.
Dravet C. Severe myoclonic epilepsy in infants and its related syndromes. Epilepsia. 2000;41(Suppl 9):7.
Rodda JM, Scheffer IE, McMahon JM, Berkovic SF, Graham HK. Progressive gait deterioration in adolescents with Dravet syndrome. Arch Neurol. 2012;69:873-8.
Cetica V, Chiari S, Mei D, Parrini E, Grisotto L, Marini C, et al. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. Neurology. 2017;88:1037-44.
Wu YW, Sullivan J, McDaniel SS, Meisler MH, Walsh EM, Li SX, et al. Incidence of Dravet syndrome in a US population. Pediatrics. 2015;136:e1310-5.
Dravet C, Bureau M, Oguni H, Cokar O, Guerrini R, et al. Dravet syndrome (previously severe myoclonic epilepsy in infancy). In: Bureau M, Genton P, Delgado-Escueta A, Dravet C, Guerrini R, Tassinari CA, editors. Epileptic syndromes in infancy, childhood and adolescence. 6th ed. France: John Libbey Eurotext; 2019. p. 139-72.
Brunklaus A, Ellis R, Reavey E, Forbes GH, Zuberi SM. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain. 2012;135:2329-36.
Wolff M, Casse-Perrot C, Dravet C. Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia. 2006;47(Suppl 2):45-8.
Genton P, Velizarova R, Dravet C. Dravet syndrome: the long-term outcome. Epilepsia. 2011;52(Suppl 2):44-9.
Losito E, Kuchenbuch M, Chemaly N, Laschet J, Chiron C, Kaminska A, et al. Age-related "Sleep/nocturnal" tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet Syndrome. Epilepsy Behav. 2017;74:33-40.
Nabbout R, Chemaly N, Chipaux M, Barcia G, Bouis C, Dubouch C, et al. Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy. Orphanet J Rare Dis. 2013;8:176.
Ragona F, Brazzo D, De Giorgi I, Morbi M, Freri E, Teutonico F, et al. Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients. Brain Dev. 2010;32:71-7.
Villeneuve N, Laguitton V, Viellard M, Lepine A, Chabrol B, Dravet C, et al. Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome. Epilepsy Behav. 2014;31:143-8.
Scheffer IE, Nabbout R. SCN1A-related phenotypes: epilepsy and beyond. Epilepsia. 2019;60(Suppl 3):S17-24.
Nabbout R, Desguerre I, Sabbagh S, Depienne C, Plouin P, Dulac O, et al. An unexpected EEG course in Dravet syndrome. Epilepsy Res. 2008;81:90-5.
Dalic L, Mullen SA, Roulet Perez E, Scheffer I. Lamotrigine can be beneficial in patients with Dravet syndrome. Dev Med Child Neurol. 2015;57:200-2.
Specchio N, Balestri M, Trivisano M, Japaridze N, Striano P, Carotenuto A, et al. Electroencephalographic features in dravet syndrome: five-year follow-up study in 22 patients. J Child Neurol. 2012;27:439-44.
Guerrini R, Striano P, Catarino C, Sisodiya SM. Neuroimaging and neuropathology of Dravet syndrome. Epilepsia. 2011;52(Suppl 2):30-4.
Gaily E, Anttonen AK, Valanne L, Liukkonen E, Traskelin AL, Polvi A, et al. Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. Epilepsia. 2013;54:1577-85.
Myers CT, Hollingsworth G, Muir AM, Schneider AL, Thuesmunn Z, Knupp A, et al. Parental mosaicism in "de novo" epileptic encephalopathies. N Engl J Med. 2018;378:1646-8.
Steel D, Symonds JD, Zuberi SM, Brunklaus A. Dravet syndrome and its mimics: beyond SCN1A. Epilepsia. 2017;58:1807-16.
Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, et al. Not all SCN1A epileptic encephalopathies are Dravet syndrome: early profound Thr226Met phenotype. Neurology. 2017;89:1035-42.
Berecki G, Bryson A, Terhag J, Maljevic S, Gazina EV, Hill SL, et al. SCN1A gain of function in early infantile encephalopathy. Ann Neurol. 2019;85:514-25.
Shellhaas RA, Wusthoff CJ, Tsuchida TN, Glass HC, Chu CJ, Massey SL, et al. Profile of neonatal epilepsies: characteristics of a prospective US cohort. Neurology. 2017;89:893-9.
Dedek K, Fusco L, Teloy N, Steinlein OK. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res. 2003;54:21-7.
Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, Flamini R, et al. KCNQ2 encephalopathy: features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet. 2016;2:e96.
Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, et al. Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. Orphanet J Rare Dis. 2013;8:80.
Allen NM, Weckhuysen S, Gorman K, King MD, Lerche H. Genetic potassium channel-associated epilepsies: clinical review of the Kv family. Eur J Paediatr Neurol. 2020;24:105-16.
Goto A, Ishii A, Shibata M, Ihara Y, Cooper EC, Hirose S. Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy. Epilepsia. 2019;60:1870-80.
Plecko B. Pyridoxine and pyridoxalphosphate-dependent epilepsies. Handb Clin Neurol. 2013;113:1811-7.
Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, et al. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. J Inherit Metab Dis. 2019;42:353-61.
Ebinger M, Schultze C, Konig S. Demographics and diagnosis of pyridoxine-dependent seizures. J Pediatr. 1999;134:795-6.
Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child. 1999;81:431-3.
Jiao X, Xue J, Gong P, Wu Y, Zhang Y, Jiang Y, et al. Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study. Dev Med Child Neurol. 2020;62:315-21.
Srinivasaraghavan R, Parameswaran N, Mathis D, Burer C, Plecko B. Antiquitin deficiency with adolescent onset epilepsy: molecular diagnosis in a mother of affected offsprings. Neuropediatrics. 2018;49:154-7.
Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, et al. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain. 2014;137:1350-60.
Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain. 2010;133:2148-59.
Bok LA, Halbertsma FJ, Houterman S, Wevers RA, Vreeswijk C, Jakobs C, et al. Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol. 2012;54:849-54.
de Rooy RLP, Halbertsma FJ, Struijs EA, van Spronsen FJ, Lunsing RJ, Schippers HM, et al. Pyridoxine dependent epilepsy: is late onset a predictor for favorable outcome? Eur J Paediatr Neurol. 2018;22:662-6.
Hatch J, Coman D, Clayton P, Mills P, Calvert S, Webster RI, et al. Normal neurodevelopmental outcomes in PNPO deficiency: a case series and literature review. JIMD Rep. 2016;26:91-7.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, et al. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab. 2011;104:48-60.
Coman D, Lewindon P, Clayton P, Riney K. PNPO deficiency and cirrhosis: expanding the clinical phenotype? JIMD Rep. 2016;25:71-5.
Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr. Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia. 2009;50:1167-75.
Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, et al. Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause vitamin-B6-dependent epilepsy. Am J Hum Genet. 2016;99:1325-37.
Lindy AS, Stosser MB, Butler E, Downtain-Pickersgill C, Shanmugham A, Retterer K, et al. Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. Epilepsia. 2018;59:1062-71.
Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, et al. Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure. 2018;59:132-40.
Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, et al. Cyclin-dependent kinase-like 5 deficiency disorder: clinical review. Pediatr Neurol. 2019;97:18-25.
Demarest ST, Olson HE, Moss A, Pestana-Knight E, Zhang X, Parikh S, et al. CDKL5 deficiency disorder: relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia. 2019;60:1733-42.
Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, et al. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. 2013;21:266-73.
Fehr S, Wong K, Chin R, Williams S, de Klerk N, Forbes D, et al. Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder. Neurology. 2016;87:2206-13.
Klein KM, Yendle SC, Harvey AS, Antony JH, Wallace G, Bienvenu T, et al. A distinctive seizure type in patients with CDKL5 mutations: hypermotor-tonic-spasms sequence. Neurology. 2011;76:1436-8.
Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gerard M, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia. 2008;49:1027-37.
Melani F, Mei D, Pisano T, Savasta S, Franzoni E, Ferrari AR, et al. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol. 2011;53:354-60.
Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 2009;5(2):e1000381.
Chemaly N, Losito E, Pinard JM, Gautier A, Villeneuve N, Arbues AS, et al. Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation. Epileptic Disord. 2018;20:457-67.
Lotte J, Bast T, Borusiak P, Coppola A, Cross JH, Dimova P, et al. Effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Seizure. 2016;35:106-10.
Kolc KL, Sadleir LG, Depienne C, Marini C, Scheffer IE, Moller RS, et al. A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy. Transl Psychiatry. 2020;10:127.
Breuillard D, Leunen D, Chemaly N, Auclair L, Pinard JM, Kaminska A, et al. Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations. Epilepsy Behav. 2016;60:75-80.
Trivisano M, Specchio N. The role of PCDH19 in refractory status epilepticus. Epilepsy Behav. 2019;101:106539.
de Lange IM, Rump P, Neuteboom RF, Augustijn PB, Hodges K, Kistemaker AI, et al. Male patients affected by mosaic PCDH19 mutations: five new cases. Neurogenetics. 2017;18:147-53.
Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, et al. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases. Epilepsia. 2017;58:565-75.
Wang D, Pascual JM, De Vivo D. Glucose transporter type 1 deficiency syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle WA: 1993.
De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991;325:703-9.
Pong AW, Geary BR, Engelstad KM, Natarajan A, Yang H, De Vivo DC. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. Epilepsia. 2012;53:1503-10.
Kossoff EH, Zupec-Kania BA, Auvin S, Ballaban-Gil KR, Christina Bergqvist AG, Blackford R, et al. Optimal clinical management of children receiving dietary therapies for epilepsy: updated recommendations of the International Ketogenic Diet Study Group. Epilepsia Open. 2018;3:175-92.
Klepper J, Akman C, Armeno M, Auvin S, Cervenka M, Cross HJ, et al. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group. Epilepsia Open. 2020;5:354-65.
Wolking S, Becker F, Bast T, Wiemer-Kruel A, Mayer T, Lerche H, et al. Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature. J Neurol. 2014;261:1881-6.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010;133:655-70.
Pearson TS, Pons R, Engelstad K, Kane SA, Goldberg ME, De Vivo DC. Paroxysmal eye-head movements in Glut1 deficiency syndrome. Neurology. 2017;88:1666-73.
Leen WG, de Wit CJ, Wevers RA, van Engelen BG, Kamsteeg EJ, Klepper J, et al. Child neurology: differential diagnosis of a low CSF glucose in children and young adults. Neurology. 2013;81:e178-81.
Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology. 2010;75:432-40.
Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA. GLUT1 deficiency syndrome into adulthood: a follow-up study. J Neurol. 2014;261:589-99.
Arsov T, Mullen SA, Damiano JA, Lawrence KM, Huh LL, Nolan M, et al. Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia. 2012;53:e204-7.
Leary LD, Wang D, Nordli DR Jr, Engelstad K, De Vivo DC. Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. Epilepsia. 2003;44:701-7.
Vaudano AE, Olivotto S, Ruggieri A, Gessaroli G, De Giorgis V, Parmeggiani A, et al. Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome. Neuroimage Clin. 2017;13:446-54.
Ismayilova N, Hacohen Y, MacKinnon AD, Elmslie F, Clarke A. GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging. Eur J Paediatr Neurol. 2018;22:1161-4.
Klepper J, Engelbrecht V, Scheffer H, van der Knaap MS, Fiedler A. GLUT1 deficiency with delayed myelination responding to ketogenic diet. Pediatr Neurol. 2007;37:130-3.
Akman CI, Provenzano F, Wang D, Engelstad K, Hinton V, Yu J, et al. Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency. Epilepsy Res. 2015;110:206-15.
Gras D, Cousin C, Kappeler C, Fung CW, Auvin S, Essid N, et al. A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. Ann Neurol. 2017;82:133-8.
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368:1971-9.
Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet. 1995;57:35-45.
Dutkiewicz AS, Ezzedine K, Mazereeuw-Hautier J, Lacour JP, Barbarot S, Vabres P, et al. A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol. 2015;72:473-80.
Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA. New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk. Br J Dermatol. 2014;171:861-7.
Bar C, Pedespan JM, Boccara O, Garcelon N, Levy R, Grevent D, et al. Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. Dev Med Child Neurol. 2020;62:227-33.
Aydin A, Cakmakci H, Kovanlikaya A, Dirik E. Sturge-Weber syndrome without facial nevus. Pediatr Neurol. 2000;22:400-2.
Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol. 1995;10:49-58.
Bosnyak E, Behen ME, Guy WC, Asano E, Chugani HT, Juhasz C. Predictors of cognitive functions in children with Sturge-Weber syndrome: a longitudinal study. Pediatr Neurol. 2016;61:38-45.
Alkonyi B, Chugani HT, Karia S, Behen ME, Juhasz C. Clinical outcomes in bilateral Sturge-Weber syndrome. Pediatr Neurol. 2011;44:443-9.
Comi A. Current therapeutic options in Sturge-Weber syndrome. Semin Pediatr Neurol. 2015;22:295-301.
Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viano J. Sturge-Weber syndrome: study of 55 patients. Can J Neurol Sci. 2008;35:301-7.
Pinto AL, Chen L, Friedman R, Grant PE, Poduri A, Takeoka M, et al. Sturge-Weber syndrome: brain magnetic resonance imaging and neuropathology findings. Pediatr Neurol. 2016;58:25-30.
Pinto A, Sahin M, Pearl PL. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Research. 2016;5:370.
Ville D, Enjolras O, Chiron C, Dulac O. Prophylactic antiepileptic treatment in Sturge-Weber disease. Seizure. 2002;11:145-50.
Kossoff EH, Bachur CD, Quain AM, Ewen JB, Comi AM. EEG evolution in Sturge-Weber syndrome. Epilepsy Res. 2014;108:816-9.
Bar C, Kaminska A, Nabbout R. Spikes might precede seizures and predict epilepsy in children with Sturge-Weber syndrome: a pilot study. Epilepsy Res. 2018;143:75-8.
Brandberg G, Raininko R, Eeg-Olofsson O. Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents. Eur J Paediatr Neurol. 2004;8:35-44.
Kerrigan JF. Hypothalamic hamartoma and gelastic epilepsy. In: Shorvon S, Andermann F, Guerrini R, editors. The causes of epilepsy: common and uncommon causes in adults and children. Cambridge, UK: Cambridge University Press; 2011. p. 449-53.
Shahar E, Kramer U, Mahajnah M, Lerman-Sagie T, Goez R, Gross V, et al. Pediatric-onset gelastic seizures: clinical data and outcome. Pediatr Neurol. 2007;37:29-34.
Frattali CM, Liow K, Craig GH, Korenman LM, Makhlouf F, Sato S, et al. Cognitive deficits in children with gelastic seizures and hypothalamic hamartoma. Neurology. 2001;57:43-6.
Quiske A, Frings L, Wagner K, Unterrainer J, Schulze-Bonhage A. Cognitive functions in juvenile and adult patients with gelastic epilepsy due to hypothalamic hamartoma. Epilepsia. 2006;47:153-8.
Kerrigan JF, Ng YT, Prenger E, Krishnamoorthy KS, Wang NC, Rekate HL. Hypothalamic hamartoma and infantile spasms. Epilepsia. 2007;48:89-95.
Shim KW, Chang JH, Park YG, Kim HD, Choi JU, Kim DS. Treatment modality for intractable epilepsy in hypothalamic hamartomatous lesions. Neurosurgery. 2008;62:847-56.
Delalonde O, Fohlen M. Disconnecting surgical treatment of hypothalamic hamartoma in children and adults with refractory epilepsy and proposal of a new classification. Neurol Med Chir (Tokyo). 2003;43:61-8.
Hildebrand MS, Griffin NG, Damiano JA, Cops EJ, Burgess R, Ozturk E, et al. Mutations of the Sonic Hedgehog pathway underlie hypothalamic hamartoma with gelastic epilepsy. Am J Hum Genet. 2016;99:423-9.