Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Neurology"
DOI: 10.1002/ana.24929
Abstract: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. read more here.
Keywords: ataxia due; myoclonus epilepsy; kcnc1 mutation; epilepsy ataxia ... See more keywords
Congenital ataxia due to novel variant in ATP8A2
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.13954
Abstract: Congenital ataxias are a heterogeneous group of disorders characterized by congenital or early‐onset ataxia. Here, we describe two siblings with congenital ataxia, who acquired independent gait by age 4 years. After 16 years of follow‐up they presented… read more here.
Keywords: ataxia due; congenital ataxia; novel variant; due novel ... See more keywords