Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.K69_I70Splc
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SCN1B

NM_001037.5:p.K69_I70Splc

Associated Papers

Whole exome sequencing revealed ultra-rare genetic variations in juvenile myoclonic epilepsy.

Yacoub AM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Bennett CA et al.

Neurology. Genetics, 2017

28717674 (PubMed )
Supplement: supp_3.4.e163_Table_e-1.xlsx › Strong_segregation_support

Sodium channel β subunits: emerging targets in channelopathies.

O'Malley HA et al.

Annual Review of Physiology, 2015

New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures.

Fendri-Kriaa N et al.

European Journal of Neurology, 2011

Genes associated with idiopathic epilepsies: a current overview.

Lu Y et al.

Neurological Research, 2009

GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families.

Mrabet H et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2007

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

Scheffer IE et al.

Brain : a Journal of Neurology, 2007

Genes and loci involved in febrile seizures and related epilepsy syndromes.

Audenaert D et al.

Human Mutation, 2006

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.

Audenaert D et al.

Neurology, 2003

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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."