Article
Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations.
Epilepsy research - 1 Jan 2016
Hawkins Nicole A, Kearney Jennifer A
Abstract excerpt
Mutations in voltage-gated sodium channel genes cause several types of human epilepsies. Often, individuals with the same sodium channel mutation exhibit diverse phenotypes. This suggests that factors beyond the primary mutation influence disease severity, including genetic modifiers. Mouse epilepsy models with voltage-gated sodium channel mutations exhibit strain-dependent phenotype variability, supporting a...
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