Epilepsy surgery as a treatment option for select patients with PCDH19-related epilepsy.
Epilepsy surgery
Genetic epilepsies
Medication resistant epilepsy
PCDH19
Journal
Epilepsy & behavior : E&B
ISSN: 1525-5069
Titre abrégé: Epilepsy Behav
Pays: United States
ID NLM: 100892858
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
03
07
2023
revised:
31
10
2023
accepted:
02
11
2023
medline:
11
12
2023
pubmed:
14
11
2023
entrez:
13
11
2023
Statut:
ppublish
Résumé
PCDH19 is a common epilepsy gene causing medication resistant epilepsy with fever-related seizures. Traditionally, patients with PCDH19-related epilepsy have not been considered surgical candidates. This retrospective review evaluated three patients with pathogenic variants in PCDH19 who presented with seizures in childhood, had one seizure semiology, became medication resistant, and had concordant imaging, seizure semiology and electrographic findings. All three patients ultimately underwent temporal lobectomy, resulting in seizure freedom. These findings suggest epilepsy surgery can be an effective treatment option for select patients with PCDH19-related epilepsy and a single seizure semiology.
Identifiants
pubmed: 37956604
pii: S1525-5050(23)00436-5
doi: 10.1016/j.yebeh.2023.109517
pii:
doi:
Substances chimiques
Cadherins
0
Protocadherins
0
PCDH19 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
109517Informations de copyright
Published by Elsevier Inc.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.