Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Andreas BrunklausJuanjiangmeng DuFelix StecklerIsmael I GhantyKatrine Marie JohannesenChristina Dühring FengerStephanie SchorgeDavid Baez-NietoHao-Ran WangAndrew AllenJen Q PanHolger LercheHenrike HeyneJoseph D SymondsSameer M ZuberiStephan SandersBeth R SheidleyDana CraiuHeather E OlsonSarah WeckhuysenPeter DeJongeIngo HelbigHilde Van EschTiffany BusaMatthieu MilhBertrand IsidorChristel DepienneAnnapurna H PoduriArthur J CampbellJordane DimidschsteinRikke Steensjerre MollerDennis LalPublished in: Epilepsia (2020)
Variant function and location within one channel can serve as a surrogate for variant effects across related sodium channels. Taking a broader view on precision treatment suggests that in those patients with a suspected underlying genetic epilepsy presenting with neonatal or early onset seizures (<3 months), SCBs should be considered.