Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.

Edgard VerduraCarme FonsAgatha SchlüterMontserrat RuizStéphane FourcadeCarlos CasasnovasAntonio CastellanoAurora Pujol

Published in: Journal of medical genetics (2019)

This newly identified variant is the first to be reported to act in a recessive mode of inheritance in KCNA1. These findings serve as a cautionary tale for the diagnosis of channelopathies, in which an unreported phenotypic presentation or mode of inheritance for the variant of interest can hinder the identification of causative variants and adequate treatment choice.

Keyphrases

mitochondrial dna
copy number
early onset
case report
gene expression
combination therapy
decision making
autism spectrum disorder