Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.F1774S
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SCN1A

NM_001165963.4:p.F1774S

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Differential Regulation of Nav1.1 and SCN1A Disease Mutant Sodium Current Properties by Fibroblast Growth Factor Homologous Factors.

Frazee A et al.

Cells, 2025

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

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

Ding J et al.

Frontiers in Neurology, 2021

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Ganesan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a

Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene.

Barbieri R et al.

The Journal of Headache and Pain, 2019

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

Balciuniene J et al.

Jama Network Open, 2019

Gain of function of sporadic/familial hemiplegic migraine-causing SCN1A mutations: Use of an optimized cDNA.

Bertelli S et al.

Cephalalgia : an International Journal of Headache, 2019

Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders.

Sutherland HG et al.

Headache, 2017

Clinical and electroencephalographic abnormalities during the full duration of a sporadic hemiplegic migraine attack.

Chastan N et al.

Neurophysiologie Clinique = Clinical Neurophysiology, 2016

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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."