Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.R19K
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SCN2A

NM_001040142.2:p.R19K

Associated Papers

Association Between CYP2C9 and CYP2C19 Genetic Polymorphisms and Antiseizure Medication-Induced Adverse Reactions Among Peruvian Patients with Epilepsy.

Alvarado AT et al.

Pharmaceuticals (basel, Switzerland), 2025

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.

Thompson CH et al.

The Journal of General Physiology, 2023

Epilepsy-associated SCN2A (Na V 1.2) Variants Exhibit Diverse and Complex Functional Properties.

Thompson CH et al.

Biorxiv : the Preprint Server for Biology, 2023

Polymorphisms Affecting the Response to Novel Antiepileptic Drugs.

Urzì Brancati V et al.

International Journal of Molecular Sciences, 2023

Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study.

Ghazala E et al.

Italian Journal of Pediatrics, 2022

Amygdala and anterior cingulate transcriptomes from individuals with bipolar disorder reveal downregulated neuroimmune and synaptic pathways.

Zandi PP et al.

Nature Neuroscience, 2022

Role of SCN2A c.56G/A Gene Polymorphism in Egyptian Children with Genetic Epilepsy with Febrile Seizure Plus.

Berseem NF et al.

Cns & Neurological Disorders Drug Targets, 2022

Genetic polymorphisms in SCN2A are not associated with epilepsy risk and AEDs response: evidence from a meta-analysis.

Yang R et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8774__IV-2_

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1

Analysis of Genetic Variants in SCN1A, SCN2A, KCNK18, TRPA1 and STX1A as a Possible Marker of Migraine.

Kowalska M et al.

Current Genomics, 2020

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Association Between SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 Polymorphisms and Responsiveness to Antiepileptic Drugs: A Meta-Analysis.

Li M et al.

Frontiers in Neurology, 2020

Lack of association of SCN2A rs17183814 polymorphism with the efficacy of lamotrigine monotherapy in patients with focal epilepsy from Herzegovina area, Bosnia and Herzegovina.

Pejanovic-Skobic N et al.

Epilepsy Research, 2019

Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.

Lauxmann S et al.

Human Mutation, 2018

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

The possible effect of SCN1A and SCN2A genetic variants on carbamazepine response among Khyber Pakhtunkhwa epileptic patients, Pakistan.

Nazish HR et al.

Therapeutics and Clinical Risk Management, 2018

Allele and genotype frequencies of genes relevant to anti-epileptic drug therapy in Mexican-Mestizo healthy volunteers.

Fricke-Galindo I et al.

Pharmacogenomics, 2016

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.

Parcerisas A et al.

Journal of Alzheimer's Disease : Jad, 2014

25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P1C

Association between GSTP1 Ile105Val polymorphism and oxaliplatin-induced neuropathy: a systematic review and meta-analysis.

Peng Z et al.

Cancer Chemotherapy and Pharmacology, 2013

Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

Wang JW et al.

Epilepsy Research, 2012

Pharmacogenomic association study on the role of drug metabolizing, drug transporters and drug target gene polymorphisms in drug-resistant epilepsy in a north Indian population.

Kumari R et al.

Indian Journal of Human Genetics, 2011

Genetic susceptibility to febrile seizures: case-control association studies.

Kira R et al.

Brain & Development, 2010

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

Ogiwara I et al.

Neurology, 2009

Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population.

Lakhan R et al.

British Journal of Clinical Pharmacology, 2009

Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy.

Combi R et al.

Brain Research Bulletin, 2009

Liability of the voltage-gated sodium channel gene SCN2A R19K polymorphism to oxaliplatin-induced peripheral neuropathy.

Argyriou AA et al.

Oncology, 2009

Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.

Kwan P et al.

Pharmacogenetics and Genomics, 2008

Association analysis of gamma2 subunit of gamma-aminobutyric acid (GABA) type A receptor and voltage-gated sodium channel type II alpha-polypeptide gene mutation in southern Chinese children with febrile seizures.

Xiumin Wang et al.

Journal of Child Neurology, 2007

Phenotypes and genotypes in epilepsy with febrile seizures plus.

Ito M et al.

Epilepsy Research, 2006

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

Seizure phenotypes of a family with missense mutations in SCN2A.

Ito M et al.

Pediatric Neurology, 2004

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

Weiss LA et al.

Molecular Psychiatry, 2003

Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans.

Nakayama J et al.

Neuroscience Letters, 2002

The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy.

Haug K et al.

Epilepsy Research, 2001

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.

Sugawara T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2001

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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."