SCN8A self-limited infantile epilepsy: Does epilepsy resolve?

Young, E; Harris, R; Lieffering, N; de Valles-Ib&#225;&#241;ez, G; Nyaga, D; Bennett, MF; Hildebrand, MS; Scheffer, IE; Sadleir, LG

Author(s): Young, E; Harris, R; Lieffering, N; de Valles-Ibáñez, G; Nyaga, D; Bennett, MF; Hildebrand, MS; Scheffer, IE; Sadleir, LG;
Details: Publication Year 2024-06-07,Volume 65,Issue #8,Page e156-e162
Journal Title: Epilepsia
Abstract: 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 We identified unpublished individuals with SCN8A-SeLIE and performed detailed phenotyping.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 Nine unpublished individuals from four families were identified (age at study = 3.5-66 years).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.
Publisher: Wiley
Keywords: Scn8a; SeLIE; focal epilepsy; genetic epilepsy; seizure outcome
Research Division(s): Population Health And Immunity
PubMed ID: 38845412
Publisher's Version: https://doi.org/10.1111/epi.18016
Open Access at Publisher's Site: https://doi.org/10.1111/epi.18016
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2024-06-24 11:30:03

Last Modified: 2024-08-14 11:29:28