Varaico: Literature-Extracted Genetic Variants

Gene:SCN3A
Variant:p.K354Q
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SCN3A

NM_006922.4:p.K354Q

Associated Papers

Structure and Function of Sodium Channel Nav1.3 in Neurological Disorders.

Liao S et al.

Cellular and Molecular Neurobiology, 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

Late sodium current: incomplete inactivation triggers seizures, myotonias, arrhythmias, and pain syndromes.

Fouda MA et al.

The Journal of Physiology, 2022

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.

Ademuwagun IA et al.

Frontiers in Neurology, 2021

Altered Expression of Ion Channels in White Matter Lesions of Progressive Multiple Sclerosis: What Do We Know About Their Function?

Boscia F et al.

Frontiers in Cellular Neuroscience, 2021

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Mutations in SCN3A cause early infantile epileptic encephalopathy.

Zaman T et al.

Annals of Neurology, 2018

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.

Chen YJ et al.

Molecular Neurobiology, 2015

Genotype phenotype associations across the voltage-gated sodium channel family.

Brunklaus A et al.

Journal of Medical Genetics, 2014

The molecular biology of genetic-based epilepsies.

Deng H et al.

Molecular Neurobiology, 2014

Novel SCN3A variants associated with focal epilepsy in children.

Vanoye CG et al.

Neurobiology of Disease, 2014

The response of Na(V)1.3 sodium channels to ramp stimuli: multiple components and mechanisms.

Estacion M et al.

Journal of Neurophysiology, 2013

Neurological perspectives on voltage-gated sodium channels.

Eijkelkamp N et al.

Brain : a Journal of Neurology, 2012

Pharmacological kinetics of BmK AS, a sodium channel site 4-specific modulator on Nav1.3.

Liu ZR et al.

Neuroscience Bulletin, 2012

An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy.

Raymond G et al.

American Journal of Medical Genetics. Part A, 2011

Sodium channel mutations and epilepsy: association and causation.

Schorge S et al.

Experimental Neurology, 2010

A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons.

Estacion M et al.

Experimental Neurology, 2010

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.

Meisler MH et al.

The Journal of Physiology, 2010

Na+ channelopathies and epilepsy: recent advances and new perspectives.

Marini C et al.

Expert Review of Clinical Pharmacology, 2010

Inherited neuronal ion channelopathies: new windows on complex neurological diseases.

Catterall WA et al.

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

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy.

Holland KD et al.

Neuroscience Letters, 2008

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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."