The Bright Side of the Spectrum: Self‐Limited Infantile Epilepsy‐Related SCN8A Gof Variant

Le résumé fourni par la source

Sodium channelopathies represent a leading monogenic cause of epilepsy, epileptic encephalopathy and autism spectrum disorder. Pathogenic variants in voltage-gated sodium channels can lead to either gain-of-function or loss-of-function, resulting in highly diverse clinical phenotypes associated with the same gene. In this case report, we aimed to discuss a patient who presented with afebrile seizures at 6 months of age and was diagnosed with 'self-limited infantile epilepsy (SeLIE)' following the identification of a gain-of-function pathogenic variant in the SCN8A gene, in light of current guidelines and consensus recommendations. Furthermore, considering recent advancements, we aimed to emphasize that bioinformatic software tools for assessing the functional impact of pathogenic variants in ion channels can serve as a crucial guide for clinicians in treatment selection.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.