Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.Q1489K
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SCN1A

NM_001165963.4:p.Q1489K

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

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

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

The effect of alterations of schizophrenia-associated genes on gamma band oscillations.

Metzner C et al.

Schizophrenia (heidelberg, Germany), 2022

35854005 (PubMed )
Supplement: 41537_2022_255_MOESM1_ESM.pdf

Sodium channelopathies of skeletal muscle and brain.

Mantegazza M et al.

Physiological Reviews, 2021

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

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

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

Alterations in Schizophrenia-Associated Genes Can Lead to Increased Power in Delta Oscillations.

Mäki-Marttunen T et al.

Cerebral Cortex (new York, N.y. : 1991), 2019

30475994 (PubMed )
Supplement: bhy291_supplementary.pdf

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

Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.

Mäki-Marttunen T et al.

Translational Psychiatry, 2017

A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report.

Zhang Y et al.

Cephalalgia : an International Journal of Headache, 2017

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Bennett CA et al.

Neurology. Genetics, 2017

28717674 (PubMed )
Supplement: supp_3.4.e163_Table_e-1.xlsx › Other_neurological_disorders

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

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

Fan C et al.

Cephalalgia : an International Journal of Headache, 2016

Functional Effects of Schizophrenia-Linked Genetic Variants on Intrinsic Single-Neuron Excitability: A Modeling Study.

Mäki-Marttunen T et al.

Biological Psychiatry. Cognitive Neuroscience and Neuroimaging, 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

Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.

Cestèle S et al.

Epilepsia, 2013

Neurological perspectives on voltage-gated sodium channels.

Eijkelkamp N et al.

Brain : a Journal of Neurology, 2012

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

Kahlig KM et al.

British Journal of Pharmacology, 2010

Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel.

Cestèle S et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

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

Genetics of migraine: an update with special attention to genetic comorbidity.

Stam AH et al.

Current Opinion in Neurology, 2008

Migraine: gene mutations and functional consequences.

van den Maagdenberg AM et al.

Current Opinion in Neurology, 2007

Migraine: a complex genetic disorder.

Wessman M et al.

The Lancet. Neurology, 2007

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online.

Vanmolkot KR et al.

Human Mutation, 2007

Recent advances in the pharmacogenomics of pain and headache.

Montagna P

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2007

The genetic spectrum of a population-based sample of familial hemiplegic migraine.

Thomsen LL et al.

Brain : a Journal of Neurology, 2007

Establishing the genetic heterogeneity of familial hemiplegic migraine.

Low N et al.

Brain : a Journal of Neurology, 2007

[Genetics of migraine].

Freilinger T et al.

Der Nervenarzt, 2006

New insights into migraine pathophysiology.

Sanchez-Del-Rio M et al.

Current Opinion in Neurology, 2006

Genetic neurological channelopathies.

Hanna MG

Nature Clinical Practice. Neurology, 2006

Third gene identified for hereditary headache.

Schwedt TJ et al.

The Lancet. Neurology, 2005

Another migraine gene.

Goadsby PJ et al.

Lancet (london, England), 0

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.

Dichgans M et al.

Lancet (london, England), 0

Genetic biomarkers for migraine.

De Vries B et al.

Headache, 0

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