Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.I196F
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KCNB1

NM_004975.4:p.I196F

Associated Papers

Potassium channel-related epilepsy: Pathogenesis and clinical features.

Zhao T et al.

Epilepsia Open, 2024

Efficacy of ethosuximide on atonic seizures with KCNB1 mutation.

Hoshino H et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2022

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."