Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.Q1489H
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SCN1A

NM_001165963.4:p.Q1489H

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Voltage-Gated Sodium Channel Dysfunctions in Neurological Disorders.

Barbieri R et al.

Life (basel, Switzerland), 2023

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

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.

Gotra P et al.

Molecular Neurobiology, 2021

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

Ding J et al.

Frontiers in Neurology, 2021

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

Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L.

Schubert V et al.

Cephalalgia : an International Journal of Headache, 2018

Epilepsy and migraine-Are they comorbidity?

Liao J et al.

Genes & Diseases, 2018

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

Sutherland HG et al.

Headache, 2017

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.

Fan C et al.

Cephalalgia : an International Journal of Headache, 2016

Two novel SCN1A mutations identified in families with familial hemiplegic migraine.

Weller CM et al.

Cephalalgia : an International Journal of Headache, 2014

Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley.

Barros J et al.

Cephalalgia : an International Journal of Headache, 2014

Migraine genetics: Part II.

Silberstein SD et al.

Headache, 2013

Pearls and pitfalls in genetic studies of migraine.

Eising E et al.

Cephalalgia : an International Journal of Headache, 2013

Sodium overload due to a persistent current that attenuates the arrhythmogenic potential of a novel LQT3 mutation.

Moreau A et al.

Frontiers in Pharmacology, 2013

Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.

Vahedi K et al.

Neurology, 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."