Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Brain14.50
Volume: 145, Issue: 9, Pages: 2991 - 3009
Published: Aug 25, 2021
Abstract
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with the aim of describing clinical phenotypes related to functional effects. Six different clinical subgroups were identified: Group 1, benign familial infantile epilepsy (n = 15, normal cognition, treatable seizures); Group 2, intermediate epilepsy (n = 33, mild...
Paper Details
Title
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Published Date
Aug 25, 2021
Journal
Volume
145
Issue
9
Pages
2991 - 3009
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