Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.A239V
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SCN1A

NM_001165963.4:p.A239V

Associated Papers

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Gonsales MC et al.

Frontiers in Neurology, 2019

31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

Lal D et al.

Plos One, 2016

Efficacy of verapamil as an adjunctive treatment in children with drug-resistant epilepsy: a pilot study.

Nicita F et al.

Seizure, 2014

Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

Nicita F et al.

Journal of Child Neurology, 2010

Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy.

Iannetti P et al.

Epilepsy Research, 2009

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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."