Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.R946S
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SCN1A

NM_001165963.4:p.R946S

Associated Papers

SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Ding J et al.

Frontiers in Neurology, 2021

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies.

Tiefes AM et al.

Clinical Eeg and Neuroscience, 2019

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Walsh R et al.

Journal of Medical Genetics, 2014

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.

Kanai K et al.

Journal of Medical Genetics, 2009

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.

Hahn A et al.

Brain & Development, 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."