Article
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.
Scientific reports - 19 Oct 2015
Saitsu Hirotomo, Akita Tenpei, Tohyama Jun, Goldberg-Stern Hadassa, Kobayashi Yu, Cohen Roni, Kato Mitsuhiro, Ohba Chihiro, Miyatake Satoko, Tsurusaki Yoshinori, Nakashima Mitsuko, Miyake Noriko, Fukuda Atsuo, Matsumoto Naomichi
Abstract excerpt
The voltage-gated Kv2.1 potassium channel encoded by KCNB1 produces the major delayed rectifier potassium current in pyramidal neurons. Recently, de novo heterozygous missense KCNB1 mutations have been identified in three patients with epileptic encephalopathy and a patient with neurodevelopmental disorder. However, the frequency of KCNB1 mutations in infantile epileptic patients and their effects on neuronal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.