Cortical and Subcortical Network Dysfunction in a Female Patient With

NEXMIF developmental and epileptic encephalopathy epilepsy eyelid myoclonia with absences fMRI non convulsive status epilepticus

Journal

Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899

Informations de publication

Date de publication:
2021
Historique:
received: 09 06 2021
accepted: 10 08 2021
entrez: 27 9 2021
pubmed: 28 9 2021
medline: 28 9 2021
Statut: epublish

Résumé

The developmental and epileptic encephalopathies (DEE) are the most severe group of epilepsies. Recently,

Identifiants

pubmed: 34566868
doi: 10.3389/fneur.2021.722664
pmc: PMC8459922
doi:

Banques de données

Dryad
['10.5061/dryad.kwh70rz49']

Types de publication

Journal Article

Langues

eng

Pagination

722664

Informations de copyright

Copyright © 2021 Cioclu, Coppola, Tondelli, Vaudano, Giovannini, Krithika, Iacomino, Zara, Sisodiya and Meletti.

Déclaration de conflit d'intérêts

AC has received research grant support from the Ministry of Health (MOH) and has received personal compensation as scientific advisory board member for EISAI, BIAL, and GW pharmaceutical Company. SM received research grant support from the Ministry of Health (MOH); has received personal compensation as scientific advisory board member for UCB and EISAI. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Références

J Neurosci. 2020 Jan 2;40(1):237-254
pubmed: 31704787
Am J Psychiatry. 2016 Sep 9;174(1):60-69
pubmed: 27609241
Epilepsia. 2018 Jun;59(6):1177-1187
pubmed: 29750358
Front Neurol. 2020 Jul 02;11:622
pubmed: 32714274
Mol Psychiatry. 2018 Apr;23(4):932-942
pubmed: 28461699
Cogn Neuropsychol. 2010 May;27(3):245-60
pubmed: 20936548
J Med Genet. 2016 Dec;53(12):850-858
pubmed: 27358180
Epilepsia. 2017 Apr;58(4):512-521
pubmed: 28276062
Am J Med Genet A. 2015 Jun;167(6):1349-53
pubmed: 25900396
Nat Genet. 2012 Apr 15;44(5):552-61
pubmed: 22504417
Mol Psychiatry. 2016 Jun;21(6):806-12
pubmed: 26122586
Am J Med Genet A. 2016 Mar;170(3):703-6
pubmed: 26576034
J Med Genet. 2004 Oct;41(10):736-42
pubmed: 15466006
Neurochem Int. 2013 Nov;63(6):561-9
pubmed: 24071057
Hum Mol Genet. 2013 Aug 15;22(16):3306-14
pubmed: 23615299
Ann Neurol. 2014 Sep;76(3):412-27
pubmed: 25130932
Acta Neurol Belg. 2020 Feb;120(1):205-207
pubmed: 29417424
Am J Med Genet A. 2020 Nov;182(11):2765-2772
pubmed: 32924309
Clin Genet. 2017 May;91(5):756-763
pubmed: 27568816
Nat Genet. 2018 Jul;50(7):1048-1053
pubmed: 29942082
Brain. 2018 Feb 1;141(2):391-408
pubmed: 29365066
Epilepsy Behav. 2020 Dec 18;:107654
pubmed: 33349540
Genet Med. 2021 Feb;23(2):363-373
pubmed: 33144681
eNeuro. 2016 Oct 28;3(5):
pubmed: 27822498
Neurology. 2013 May 14;80(20):1895-900
pubmed: 23616155
Neuroscience. 2012 Jul 12;214:181-91
pubmed: 22531377
Neuroimage. 2012 Aug 15;62(2):774-81
pubmed: 22248573

Auteurs

Maria Cristina Cioclu (MC)

Department of Biomedical, Metabolic, and Neural Science, University of Modena and Reggio Emilia, Modena, Italy.

Antonietta Coppola (A)

Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

Manuela Tondelli (M)

Neurology Unit, OCB Hospital, Azienda Ospedaliera Universitaria di Modena, Modena, Italy.

Anna Elisabetta Vaudano (AE)

Neurology Unit, OCB Hospital, Azienda Ospedaliera Universitaria di Modena, Modena, Italy.

Giada Giovannini (G)

Department of Biomedical, Metabolic, and Neural Science, University of Modena and Reggio Emilia, Modena, Italy.
Neurology Unit, OCB Hospital, Azienda Ospedaliera Universitaria di Modena, Modena, Italy.
PhD Program in Clinical and Experimental Medicine, University of Modena and Reggio Emilia, Modena, Italy.

S Krithika (S)

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.
The Chalfont Centre for Epilepsy, Chalfont-St-Peter, Bucks, United Kingdom.
School of Life Sciences, Anglia Ruskin University, Cambridge, United Kingdom.

Michele Iacomino (M)

Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genova, Italy.

Federico Zara (F)

Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genova, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Faculty of Medical and Pharmaceutical Sciences, University of Genoa, Genova, Italy.

Sanjay M Sisodiya (SM)

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.
The Chalfont Centre for Epilepsy, Chalfont-St-Peter, Bucks, United Kingdom.

Stefano Meletti (S)

Department of Biomedical, Metabolic, and Neural Science, University of Modena and Reggio Emilia, Modena, Italy.
Neurology Unit, OCB Hospital, Azienda Ospedaliera Universitaria di Modena, Modena, Italy.

Classifications MeSH