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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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PMID: 36257979
DOI: 10.1038/s10038-022-01090-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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