Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.W370*
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KCNB1

NM_004975.4:p.W370*

Associated Papers

Efficacy of ethosuximide on atonic seizures with KCNB1 mutation.

Hoshino H et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 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

Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Kessi M et al.

Frontiers in Genetics, 2020

32655623 (PubMed )
Supplement: Table_1.docx

Genetic heterogeneity in infantile spasms.

Muir AM et al.

Epilepsy Research, 2019

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

Marini C et al.

Neurology. Genetics, 2017

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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."