Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.T377N
Back to variants list

KCNB1

NM_004975.4:p.T377N

Associated Papers

Potassium channel-related epilepsy: Pathogenesis and clinical features.

Zhao T et al.

Epilepsia Open, 2024

A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures.

Veale EL et al.

Frontiers in Pharmacology, 2022

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Bar C et al.

Human Mutation, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."