Catherine A Brownstein Alan H Beggs Lance Rodan Jiahai Shi Meghan C Towne Renee Pelletier Siqi Cao Paul A Rosenberg David K Urion Jonathan Picker Wen-Hann Tan Pankaj B Agrawal
10.1007/s10048-015-0460-2
Neurogenetics
2016 Jan;17(1):11-6.
cataplexy episodic ataxia hypertonia kcna1 whole exome sequencing
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/26395884/
Ataxia / genetics Cataplexy / genetics Kv1.1 Potassium Channel / genetics Mutation Myokymia / genetics
Ataxia / genetics Cataplexy / genetics Kv1.1 Potassium Channel / genetics Mutation Myokymia / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adolescent Adult Child Female Genetic Heterogeneity Humans Male Middle Aged Mutation, Missense Pedigree Phenotype Young Adult KCNA1 protein, human Kv1.1 Potassium Channel Episodic Ataxia, Type 1
PMC4911217
26395884
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
2016