A single-center SCN8A-related epilepsy cohort: clinical, genetic, and physiologic characterization.

Tariq ZamanAhmad Abou TayounEthan M Goldberg

Published in: Annals of clinical and translational neurology (2019)

We present a comprehensive single-center dataset for SCN8A epilepsy that includes clinical, genetic, electrophysiologic, and pharmacologic data. We confirm a spectrum of severity and a variety of biophysical defects of Nav1.6 variants consistent with gain of channel function. Na+ channel blockers in the treatment of SCN8A epilepsy may correlate with the effect of such agents on pathological Na+ current observed in heterologous systems.

Keyphrases

copy number
genome wide
gene expression
electronic health record
dna methylation
machine learning
combination therapy
data analysis
bacillus subtilis