Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.

doi:10.1111/epi.16438

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Article

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.

Epilepsia - 1 Mar 2020

Brunklaus Andreas, Du Juanjiangmeng, Steckler Felix, Ghanty Ismael I, Johannesen Katrine M, Fenger Christina Dühring, Schorge Stephanie, Baez-Nieto David, Wang Hao-Ran, Allen Andrew, Pan Jen Q, Lerche Holger, Heyne Henrike, Symonds Joseph D, Zuberi Sameer M, Sanders Stephan, Sheidley Beth R, Craiu Dana, Olson Heather E, Weckhuysen Sarah, DeJonge Peter, Helbig Ingo, Van Esch Hilde, Busa Tiffany, Milh Matthieu, Isidor Bertrand, Depienne Christel, Poduri Annapurna, Campbell Arthur J, Dimidschstein Jordane, Møller Rikke S, Lal Dennis

Abstract excerpt

OBJECTIVE: Voltage-gated sodium channels (SCNs) share similar amino acid sequence, structure, and function. Genetic variants in the four human brain-expressed SCN genes SCN1A/2A/3A/8A have been associated with heterogeneous epilepsy phenotypes and neurodevelopmental disorders. To better understand the biology of seizure susceptibility in SCN-related epilepsies, our aim was to determine similarities and...

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PMID: 32090326
DOI: 10.1111/epi.16438

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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