Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.R89C
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SCN1B

NM_001037.5:p.R89C

Associated Papers

Altered cardiac excitability and arrhythmia in models of SCN1B-linked developmental and epileptic encephalopathy.

Ramos-Mondragon R et al.

Jci Insight, 2025

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Henry OJ et al.

Epilepsia, 2025

40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01

Neonatal but not juvenile gene therapy reduces seizures and prolongs lifespan in SCN1B-Dravet syndrome mice.

Chen C et al.

The Journal of Clinical Investigation, 2025

New focus on cardiac voltage-gated sodium channel β1 and β1B: Novel targets for treating and understanding arrhythmias?

Williams ZJ et al.

Heart Rhythm, 2025

Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy.

Chen C et al.

Brain Communications, 2023

SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy.

Zhu Z et al.

Children (basel, Switzerland), 2022

Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.

Ding J et al.

Frontiers in Neurology, 2022

Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a SCN1B Variant.

Dang LT et al.

Pediatric Neurology, 2020

Voltage-Gated Sodium Channel β1 Gene: An Overview.

Al-Ward H et al.

Human Heredity, 2020

Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.

Darras N et al.

American Journal of Medical Genetics. Part A, 2019

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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."