The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation.
Dravet syndrome
GEFS
PCDH19
antiseizure medication (ASM)
epilepsy and mental retardation limited to female (EFMR)
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2021
2021
Historique:
received:
20
09
2021
accepted:
15
12
2021
entrez:
3
2
2022
pubmed:
4
2
2022
medline:
4
2
2022
Statut:
epublish
Résumé
Protocadherin 19 (PCDH19) gene is one of the most common genes involved in epilepsy syndromes. According to literature data PCDH19 is among the 6 genes most involved in genetic epilepsies. PCDH19 is located on chromosome Xq22.1 and is involved in neuronal connections and signal transduction. The most frequent clinical expression of PCDH19 mutation is epilepsy and mental retardation limited to female (EFMR) characterized by epileptic and non-epileptic symptoms affecting mainly females. However, the phenotypic spectrum of these mutations is considerably variable from genetic epilepsy with febrile seizure plus to epileptic encephalopathies. The peculiar exclusive involvement of females seems to be caused by a cellular interference in heterozygosity, however, affected mosaic-males have been reported. Seizure types range from focal seizure to generalized tonic-clonic, tonic, atonic, absences, and myoclonic jerks. Treatment of PCDH19-related epilepsy is limited by drug resistance and by the absence of specific treatment indications. However, seizures become less severe with adolescence and some patients may even become seizure-free. Non-epileptic symptoms represent the main disabilities of adult patients with PCDH19 mutation. This review aims to analyze the highly variable phenotypic expression of PCDH19 gene mutation associated with epilepsy.
Identifiants
pubmed: 35111125
doi: 10.3389/fneur.2021.780053
pmc: PMC8801579
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
780053Informations de copyright
Copyright © 2022 Dell'Isola, Vinti, Fattorusso, Tascini, Mencaroni, Di Cara, Striano and Verrotti.
Déclaration de conflit d'intérêts
The 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
Epilepsia. 2012 Dec;53(12):2111-9
pubmed: 22946748
Epilepsia. 2018 Dec;59(12):2260-2271
pubmed: 30451291
Neuroscience. 2010 Sep 29;170(1):189-99
pubmed: 20541594
Hum Mol Genet. 2004 Jul 1;13(13):1315-9
pubmed: 15115768
Science. 2021 Apr 16;372(6539):
pubmed: 33859005
Pediatr Neurol. 2021 Jan;114:9-10
pubmed: 33189028
Eur J Paediatr Neurol. 2020 Jan;24:142-147
pubmed: 31928905
PLoS Genet. 2009 Sep;5(9):e1000649
pubmed: 19763161
J Pediatr. 1971 Nov;79(5):726-32
pubmed: 5116697
Neurology. 2010 Aug 17;75(7):646-53
pubmed: 20713952
Hum Mol Genet. 2018 Mar 15;27(6):1027-1038
pubmed: 29360992
Front Neurol. 2021 Jun 22;12:674483
pubmed: 34239494
Epilepsia. 2018 Mar;59(3):679-689
pubmed: 29377098
Pediatr Neurol. 2020 Apr;105:3-9
pubmed: 32057594
Nat Genet. 2014 Dec;46(12):1327-32
pubmed: 25362483
Cell. 1999 Jun 11;97(6):779-90
pubmed: 10380929
Epilepsy Res. 2014 Mar;108(3):420-32
pubmed: 24480790
Mol Neurobiol. 2021 May;58(5):2005-2018
pubmed: 33411240
Epilepsia. 2011 Apr;52 Suppl 2:3-9
pubmed: 21463272
Eur J Paediatr Neurol. 2020 Jan;24:15-23
pubmed: 31882278
Clin Genet. 1990 Nov;38(5):353-8
pubmed: 2126489
Epilepsy Res. 2013 Jul;105(1-2):103-9
pubmed: 23522981
Epilepsia. 2007 Sep;48(9):1678-1685
pubmed: 17561957
Epilepsia. 2017 Feb;58(2):e26-e30
pubmed: 28084635
Brain. 2008 Apr;131(Pt 4):918-27
pubmed: 18234694
Am J Hum Genet. 2001 Jun;68(6):1327-32
pubmed: 11359211
Epileptic Disord. 2018 Dec 1;20(6):457-467
pubmed: 30530412
J Cell Biol. 2010 Nov 29;191(5):1029-41
pubmed: 21115806
Neurology. 2017 Sep 19;89(12):1210-1219
pubmed: 28842445
Nat Genet. 2001 May;28(1):46-8
pubmed: 11326274
Lancet Neurol. 2017 Jul;16(7):523-531
pubmed: 28483337
PLoS One. 2012;7(7):e41802
pubmed: 22848613
Int J Biochem Cell Biol. 2009 Feb;41(2):349-69
pubmed: 18848899
Neurogenetics. 2013 Feb;14(1):23-34
pubmed: 23334464
Ann Neurol. 1999 Jan;45(1):75-81
pubmed: 9894880
Epileptic Disord. 2018 Aug 1;20(4):232-238
pubmed: 30078767
Neurobiol Dis. 2013 Feb;50:135-41
pubmed: 23069679
J Hum Genet. 2021 Jun;66(6):569-578
pubmed: 33262389
Seizure. 2020 Aug;80:259-261
pubmed: 32682289
Nat Genet. 2008 Jun;40(6):776-81
pubmed: 18469813
Brain. 2003 Jan;126(Pt 1):230-40
pubmed: 12477709
Adv Exp Med Biol. 2020;1298:177-187
pubmed: 32852734
Transl Psychiatry. 2020 May 4;10(1):127
pubmed: 32366910
Brain. 1997 Mar;120 ( Pt 3):479-90
pubmed: 9126059
Epilepsy Res. 2016 Dec;128:48-51
pubmed: 27810516
Neurogenetics. 2021 May;22(2):105-115
pubmed: 33937968
Lancet. 2020 Dec 21;394(10216):2243-2254
pubmed: 31862249
Epilepsia. 2017 Apr;58(4):512-521
pubmed: 28276062
Eur J Paediatr Neurol. 2015 Mar;19(2):248-50
pubmed: 25510386
Epilepsia. 2017 Jun;58(6):e91-e95
pubmed: 28471529
PLoS Genet. 2009 Feb;5(2):e1000381
pubmed: 19214208
Genes Dev. 2000 May 15;14(10):1169-80
pubmed: 10817752
Mol Neurobiol. 2020 Dec;57(12):5336-5351
pubmed: 32880860
N Engl J Med. 2017 May 25;376(21):2011-2020
pubmed: 28538134
J Neurosci. 2015 Jun 10;35(23):8866-81
pubmed: 26063919
Am J Hum Genet. 2001 Apr;68(4):859-65
pubmed: 11254444
Epilepsy Res. 2016 Sep;125:32-6
pubmed: 27371789
Epilepsy Res. 2013 Sep;106(1-2):191-9
pubmed: 23712037
Epilepsy Behav. 2012 May;24(1):134-7
pubmed: 22504056
Seizure. 2016 Feb;35:106-10
pubmed: 26820223
Epilepsia. 2013 Sep;54(9):e122-6
pubmed: 23895530
Nat Genet. 1998 Aug;19(4):366-70
pubmed: 9697698
Epilepsia. 2011 Jul;52(7):1251-7
pubmed: 21480887
Brain Behav. 2019 Dec;9(12):e01455
pubmed: 31714027
Hum Mol Genet. 2015 Sep 15;24(18):5250-9
pubmed: 26123493
Seizure. 2015 Apr;27:1-5
pubmed: 25891919
Clin Genet. 2017 Jan;91(1):54-62
pubmed: 27527380
Epilepsia. 2017 Nov;58(11):1807-1816
pubmed: 28880996
Dev Neurobiol. 2019 Jan;79(1):75-84
pubmed: 30431232
Am J Hum Genet. 1999 Oct;65(4):1078-85
pubmed: 10486327
Mol Psychiatry. 2019 Feb;24(2):241-251
pubmed: 29892053
Brain Res. 2012 Aug 27;1470:130-44
pubmed: 22765916
Hum Mutat. 2011 Jan;32(1):E1959-75
pubmed: 21053371
J Clin Med. 2021 Jun 23;10(13):
pubmed: 34201522