Article
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome.
Journal of human genetics - 1 Jan 2023
Hiraide Takuya, Akita Tenpei, Uematsu Kenji, Miyamoto Sachiko, Nakashima Mitsuko, Sasaki Masayuki, Fukuda Atsuo, Kato Mitsuhiro, Saitsu Hirotomo
Abstract excerpt
KCNB1 encodes the α-subunit of Kv2.1, the main contributor to neuronal delayed rectifier potassium currents. The subunit consists of six transmembrane α helices (S1-S6), comprising the voltage-sensing domain (S1-S4) and the pore domain (S5-P-S6). Heterozygous KCNB1 pathogenic variants are associated with developmental and epileptic encephalopathy. Here we report an individual who shows the milder phenotype...
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