Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L263V
Back to variants list

SCN1A

NM_001165963.4:p.L263V

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Mechanisms underlying CSD initiation implicated by genetic mouse models of migraine.

Pietrobon D et al.

The Journal of Headache and Pain, 2025

Brainstem depolarization-induced lethal apnea associated with gain-of-function SCN1AL263V is prevented by sodium channel blockade.

Jansen NA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Spontaneous and optogenetically induced cortical spreading depolarization in familial hemiplegic migraine type 1 mutant mice.

Loonen ICM et al.

Neurobiology of Disease, 2024

Genetic Mechanisms of Migraine: Insights from Monogenic Migraine Mutations.

Gosalia H et al.

International Journal of Molecular Sciences, 2023

Pathophysiology of migraine aura.

Sanchez Del Rio M et al.

Handbook of Clinical Neurology, 2023

Genetics of migraine: Delineation of contemporary understanding of the genetic underpinning of migraine.

de Boer I et al.

Handbook of Clinical Neurology, 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

Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels.

Chever O et al.

The Journal of Clinical Investigation, 2021

Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model.

Auffenberg E et al.

The Journal of Clinical Investigation, 2021

Sodium channelopathies of skeletal muscle and brain.

Mantegazza M et al.

Physiological Reviews, 2021

Cerebellar spreading depolarization mediates paroxysmal movement disorder.

Lu B et al.

Cell Reports, 2021

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

Gotra P et al.

Molecular Neurobiology, 2021

Modeling NaV1.1/SCN1A sodium channel mutations in a microcircuit with realistic ion concentration dynamics suggests differential GABAergic mechanisms leading to hyperexcitability in epilepsy and hemiplegic migraine.

Lemaire L et al.

Plos Computational Biology, 2021

Deciphering in silico the Role of Mutated Na V 1.1 Sodium Channels in Enhancing Trigeminal Nociception in Familial Hemiplegic Migraine Type 3.

Suleimanova A et al.

Frontiers in Cellular Neuroscience, 2021

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

Ding J et al.

Frontiers in Neurology, 2021

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.

Brunklaus A et al.

Epilepsia, 2020

SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.

Brunklaus A et al.

Human Mutation, 2020

First FHM3 mouse model shows spontaneous cortical spreading depolarizations.

Jansen NA et al.

Annals of Clinical and Translational Neurology, 2020

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

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

Schubert V et al.

Cephalalgia : an International Journal of Headache, 2018

Familial Hemiplegic Migraine Type 3 (FHM3) With an SCN1A Mutation in a Chinese Family: A Case Report.

Shao N et al.

Frontiers in Neurology, 2018

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

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

Sutherland HG et al.

Headache, 2017

The genetic relationship between epilepsy and hemiplegic migraine.

Huang Y et al.

Neuropsychiatric Disease and Treatment, 2017

Animal models of monogenic migraine.

Chen SP et al.

Cephalalgia : an International Journal of Headache, 2016

From migraine genes to mechanisms.

Tolner EA et al.

Pain, 2015

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

Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects.

Cestèle S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

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

Ranolazine selectively blocks persistent current evoked by epilepsy-associated Naν1.1 mutations.

Kahlig KM et al.

British Journal of Pharmacology, 2010

Management of sporadic and familial hemiplegic migraine.

Russell MB

Expert Review of Neurotherapeutics, 2010

Subtype-selective targeting of voltage-gated sodium channels.

England S et al.

British Journal of Pharmacology, 2009

Molecular genetics of migraine.

de Vries B et al.

Human Genetics, 2009

First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy.

Castro MJ et al.

Cephalalgia : an International Journal of Headache, 2009

Divergent sodium channel defects in familial hemiplegic migraine.

Kahlig KM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."