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

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

doi:10.1111/epi.16438

Public

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

Published in Epilepsia • Feb 23, 2020

Authors:

Andreas Brunklaus

Juanjiangmeng Du

Felix Steckler

Abstract

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 t...

Subject

Relevance (law)

Sodium channel

Neuroscience

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