Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.
AEDs
Case report
Epilepsy genetics
PCDH19
Journal
BMC medical genomics
ISSN: 1755-8794
Titre abrégé: BMC Med Genomics
Pays: England
ID NLM: 101319628
Informations de publication
Date de publication:
17 08 2022
17 08 2022
Historique:
received:
23
05
2021
accepted:
08
07
2022
entrez:
17
8
2022
pubmed:
18
8
2022
medline:
20
8
2022
Statut:
epublish
Résumé
PCDH19-related epilepsy is a rare X-linked type of epilepsy caused by genomic variants of the Protocadherin 19 (PCDH19) gene. The clinical characteristics of PCDH19-related epilepsy are epileptic and non-epileptic symptoms with highly variable severity among patients. We present a case of a 4-year old female with PCDH19-related epilepsycaused by new variants in the PCDH19 gene. Our patient was admitted for the first time at the age of 12 months for seizure clusters arising under condition of apyrexia. The electroencephalography (EEG) showed frontal paroxysmal activity. The genetic analysis identified the two variants c.1006G > A (p.Val336Met) and c.1014C > A (p.Asp338Glu) in the gene PCDH19. The patient was treated with Carbamazepine and Clonazepam achieving the disappearance of seizures. During the follow-up, the neurological examination was persistently normal with neither cognitive impairment nor behavior disturbances. From 2 years of age EEG controls were persistently normal. This patient presents two novel variants of the PCDH19 gene associated with a mild form of epilepsy with normal cognitive development with an apparently better prognosis. According to our experience, the dual therapy with Carbamazepine and Clonazepam has led to a good control of seizures.
Sections du résumé
BACKGROUND
PCDH19-related epilepsy is a rare X-linked type of epilepsy caused by genomic variants of the Protocadherin 19 (PCDH19) gene. The clinical characteristics of PCDH19-related epilepsy are epileptic and non-epileptic symptoms with highly variable severity among patients.
CASE PRESENTATION
We present a case of a 4-year old female with PCDH19-related epilepsycaused by new variants in the PCDH19 gene. Our patient was admitted for the first time at the age of 12 months for seizure clusters arising under condition of apyrexia. The electroencephalography (EEG) showed frontal paroxysmal activity. The genetic analysis identified the two variants c.1006G > A (p.Val336Met) and c.1014C > A (p.Asp338Glu) in the gene PCDH19. The patient was treated with Carbamazepine and Clonazepam achieving the disappearance of seizures. During the follow-up, the neurological examination was persistently normal with neither cognitive impairment nor behavior disturbances. From 2 years of age EEG controls were persistently normal.
CONCLUSION
This patient presents two novel variants of the PCDH19 gene associated with a mild form of epilepsy with normal cognitive development with an apparently better prognosis. According to our experience, the dual therapy with Carbamazepine and Clonazepam has led to a good control of seizures.
Identifiants
pubmed: 35978409
doi: 10.1186/s12920-022-01313-w
pii: 10.1186/s12920-022-01313-w
pmc: PMC9386923
doi:
Substances chimiques
Cadherins
0
PCDH19 protein, human
0
Protocadherins
0
Carbamazepine
33CM23913M
Clonazepam
5PE9FDE8GB
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
181Informations de copyright
© 2022. The Author(s).
Références
Neurology. 2010 Aug 17;75(7):646-53
pubmed: 20713952
Front Neurol. 2022 Jan 17;12:780053
pubmed: 35111125
Cell. 1999 Jun 11;97(6):779-90
pubmed: 10380929
Neuron. 2018 Jan 3;97(1):59-66.e5
pubmed: 29301106
J Hum Genet. 2021 Jun;66(6):569-578
pubmed: 33262389
Nat Genet. 2008 Jun;40(6):776-81
pubmed: 18469813
Epilepsia. 2017 Apr;58(4):512-521
pubmed: 28276062
Genes Dev. 2000 May 15;14(10):1169-80
pubmed: 10817752
Epilepsy Behav. 2012 May;24(1):134-7
pubmed: 22504056
Brain Behav. 2019 Dec;9(12):e01455
pubmed: 31714027
Mol Psychiatry. 2019 Feb;24(2):241-251
pubmed: 29892053
Hum Mutat. 2011 Jan;32(1):E1959-75
pubmed: 21053371