The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function

The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function

Variants of the SCN1A gene encoding the neuronal voltage-gated sodium channel NaV1.1 cause over 85% of all cases of Dravet syndrome, a severe and often pharmacoresistent epileptic encephalopathy with mostly infantile onset. But with the increased availability of genetic testing for patients with epi...

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Bibliographic Details
Main Authors: Laura B. Jones, Colin H. Peters, Richard E. Rosch, Maxine Owers, Elaine Hughes, Deb K. Pal, Peter C. Ruben
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-12-01
Series:Frontiers in Pharmacology
Subjects:
childhood epilepsy
sodium channelopathies
SCN1A variant
gain of function
loss of function
Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2021.788192/full

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