SCN8A self-limited infantile epilepsy: Does epilepsy resolve?
SCN8A
SeLIE
focal epilepsy
genetic epilepsy
seizure outcome
Journal
Epilepsia
ISSN: 1528-1167
Titre abrégé: Epilepsia
Pays: United States
ID NLM: 2983306R
Informations de publication
Date de publication:
07 Jun 2024
07 Jun 2024
Historique:
revised:
05
05
2024
received:
13
12
2023
accepted:
06
05
2024
medline:
7
6
2024
pubmed:
7
6
2024
entrez:
7
6
2024
Statut:
aheadofprint
Résumé
SCN8A variants cause a spectrum of epilepsy phenotypes ranging from self-limited infantile epilepsy (SeLIE) to developmental and epileptic encephalopathy. SeLIE is an infantile onset focal epilepsy, occurring in developmentally normal infants, which often resolves by 3 years. Our aim was to ascertain when epilepsy resolves in SCN8A-SeLIE. We identified unpublished individuals with SCN8A-SeLIE and performed detailed phenotyping. Literature was searched for published SCN8A-SeLIE cases. Nine unpublished individuals from four families were identified (age at study = 3.5-66 years). Six had their last seizure after 3 years (range = 4-21 years); although drug-responsive and despite multiple weaning attempts (1-5), five of six remain on antiseizure medications (carbamazepine, n = 3; lamotrigine, n = 2). We identified 29 published individuals with SCN8A-SeLIE who had data on seizure progression. Of the 22 individuals aged at least 10 years, reported here or in the literature, nine of 22 (41%) had seizure offset prior to 3 years, five of 22 (23%) had seizure offset between 3 and 10 years, and eight of 22 (36%) had seizures after 10 years. Our data highlight that more than half of individuals with SCN8A-SeLIE continue to have seizures into late childhood. In contrast to SeLIE due to other etiologies, many individuals have a more persistent, albeit drug-responsive, form of epilepsy.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : National Health and Medical Research Council
Organisme : Health Research Council of New Zealand
Organisme : Australian Medical Research Future Fund
Organisme : Estate of Ernest Hyam Davis and the Tedd and Mollie Carr Endowment Trust
Organisme : Cure Kids New Zealand
Organisme : Freemasons New Zealand
Informations de copyright
© 2024 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.
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