SCN1A c.2292T>A ;(p.V764=)

Variant ID: 2-166897864-A-T

NM_001165963.1(SCN1A):c.2292T>A;(p.V764=)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: SCN1A: V764V
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: SCN1A: V764V
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.

Annals Of Medicine
Alghamdi, Mansour A MA; Al-Eitan, Laith N LN; Asiri, Ashwag A; Rababa'h, Doaa M DM; Alqahtani, Sultan A SA; Aldarami, Mohammed S MS; Alsaeedi, Manar A MA; Almuidh, Raghad S RS; Alzahrani, Abdulbari A AA; Sakah, Ahmad H AH; El Nashar, Eman Mohamad EM; Otaif, Mansour Y MY; Abdel Ghaffar, Nawal F NF
Publication Date: 2022-12

Variant appearance in text: rs6432860
PubMed Link: 35801810
Variant Present in the following documents:
  • Main text
  • IANN_54_2096257.pdf
View BVdb publication page



SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility.

Acta Neuropathologica
Silvennoinen, Katri K; Gawel, Kinga K; Tsortouktzidis, Despina D; Pitsch, Julika J; Alhusaini, Saud S; van Loo, Karen M J KMJ; Picardo, Richard R; Michalak, Zuzanna Z; Pagni, Susanna S; Martins Custodio, Helena H; Mills, James J; Whelan, Christopher D CD; de Zubicaray, Greig I GI; McMahon, Katie L KL; van der Ent, Wietske W; Kirstein-Smardzewska, Karolina J KJ; Tiraboschi, Ettore E; Mudge, Jonathan M JM; Frankish, Adam A; Thom, Maria M; Wright, Margaret J MJ; Thompson, Paul M PM; Schoch, Susanne S; Becker, Albert J AJ; Esguerra, Camila V CV; Sisodiya, Sanjay M SM
Publication Date: 2022-07

Variant appearance in text: rs6432860
PubMed Link: 35551471
Variant Present in the following documents:
  • Main text
  • 401_2022_Article_2429.pdf
View BVdb publication page



KCC2 rs2297201 Gene Polymorphism Might be a Predictive Genetic Marker of Febrile Seizures.

Asn Neuro
Dimitrijevic, Sanja S; Jekic, Biljana B; Cvjeticanin, Suzana S; Tucovic, Aleksandra A; Filipovic, Tamara T; Novaković, Ivana I; Ivić, Bojana B; Nikolic, Dimitrije D
Publication Date: 2022

Variant appearance in text: rs6432860
PubMed Link: 35414199
Variant Present in the following documents:
  • Main text
  • 10.1177_17590914221093257.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: SCN1A: V764V; rs6432860
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Transitioning to chronic temporomandibular disorder pain: A combination of patient vulnerabilities and iatrogenesis.

Journal Of Oral Rehabilitation
Greene, Charles S CS; Manfredini, Daniele D
Publication Date: 2021-09

Variant appearance in text: rs6432860
PubMed Link: 33966303
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Frontiers In Neurology
Ademuwagun, Ibitayo Abigail IA; Rotimi, Solomon Oladapo SO; Syrbe, Steffen S; Ajamma, Yvonne Ukamaka YU; Adebiyi, Ezekiel E
Publication Date: 2021

Variant appearance in text: rs6432860
PubMed Link: 33841294
Variant Present in the following documents:
  • Main text
  • fneur-12-600050.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: SCN1A: Val764Val; rs6432860
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs6432860
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Vaccinomics and Adversomics in the Era of Precision Medicine: A Review Based on HBV, MMR, HPV, and COVID-19 Vaccines.

Journal Of Clinical Medicine
Omersel, Jasna J; Karas Kuželički, Nataša N
Publication Date: 2020-11-05

Variant appearance in text: rs6432860
PubMed Link: 33167413
Variant Present in the following documents:
  • Main text
  • jcm-09-03561.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: N/A
PubMed Link: 32529721
Variant Present in the following documents:
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs6432860
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: SCN1A: V764V; rs6432860
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: SCN1A: Val764=; rs6432860
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: N/A
PubMed Link: 31597922
Variant Present in the following documents:
View BVdb publication page



Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel.

Cureus
Janicki, Piotr K PK; Ruiz-Velasco, Victor V; Adhikary, Sanjib S
Publication Date: 2019-05-02

Variant appearance in text: rs6432860
PubMed Link: 31309012
Variant Present in the following documents:
  • Main text
  • cureus-0011-00000004587.pdf
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs6432860
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs6432860
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs6432860
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: rs6432860
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 5
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations.

Journal Of Clinical Neurology (Seoul, Korea)
Cho, Min Jung MJ; Kwon, Soon Sung SS; Ko, Ara A; Lee, Seung Tae ST; Lee, Young Mock YM; Kim, Heung Dong HD; Chung, Hee Jung HJ; Kim, Se Hee SH; Lee, Joon Soo JS; Kim, Dae Sung DS; Kang, Hoon Chul HC
Publication Date: 2018-01

Variant appearance in text: N/A
PubMed Link: 29141279
Variant Present in the following documents:
View BVdb publication page



Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece.

Archives Of Medical Science : Ams
Angelopoulou, Christina C; Veletza, Stavroula S; Heliopoulos, Ioannis I; Vadikolias, Konstantinos K; Tripsianis, Grigorios G; Stathi, Chrysa C; Piperidou, Charitomeni C
Publication Date: 2017-02-01

Variant appearance in text: rs6432860
PubMed Link: 28144265
Variant Present in the following documents:
  • Main text
  • AMS-13-27502.pdf
View BVdb publication page



Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26

Variant appearance in text: N/A
PubMed Link: 27456059
Variant Present in the following documents:
View BVdb publication page



Painful Temporomandibular Disorder: Decade of Discovery from OPPERA Studies.

Journal Of Dental Research
Slade, G D GD; Ohrbach, R R; Greenspan, J D JD; Fillingim, R B RB; Bair, E E; Sanders, A E AE; Dubner, R R; Diatchenko, L L; Meloto, C B CB; Smith, S S; Maixner, W W
Publication Date: 2016-09

Variant appearance in text: rs6432860
PubMed Link: 27339423
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance of SCN1A and GABRA1 Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels.

Cns Neuroscience & Therapeutics
Baghel, Ruchi R; Grover, Sandeep S; Kaur, Harpreet H; Jajodia, Ajay A; Rawat, Chitra C; Srivastava, Ankit A; Kushwaha, Suman S; Agarwal, Rachna R; Sharma, Sangeeta S; Kukreti, Ritushree R
Publication Date: 2016-09

Variant appearance in text: rs6432860
PubMed Link: 27245092
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vaccination Triggers, Rather Than Causes, Seizures.

Epilepsy Currents
Scheffer, Ingrid E IE
Publication Date: 2015

Variant appearance in text: rs6432860
PubMed Link: 26633955
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: N/A
PubMed Link: 26549847
Variant Present in the following documents:
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: N/A
PubMed Link: 25944692
Variant Present in the following documents:
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: N/A
PubMed Link: 25496518
Variant Present in the following documents:
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Common variants associated with general and MMR vaccine-related febrile seizures.

Nature Genetics
Feenstra, Bjarke B; Pasternak, Björn B; Geller, Frank F; Carstensen, Lisbeth L; Wang, Tongfei T; Huang, Fen F; Eitson, Jennifer L JL; Hollegaard, Mads V MV; Svanström, Henrik H; Vestergaard, Mogens M; Hougaard, David M DM; Schoggins, John W JW; Jan, Lily Yeh LY; Melbye, Mads M; Hviid, Anders A
Publication Date: 2014-12

Variant appearance in text: rs6432860
PubMed Link: 25344690
Variant Present in the following documents:
  • nihms633400.pdf
  • NIHMS633400-supplement-1.pdf
View BVdb publication page



Genetic variants associated with development of TMD and its intermediate phenotypes: the genetic architecture of TMD in the OPPERA prospective cohort study.

The Journal Of Pain
Smith, Shad B SB; Mir, Ellen E; Bair, Eric E; Slade, Gary D GD; Dubner, Ronald R; Fillingim, Roger B RB; Greenspan, Joel D JD; Ohrbach, Richard R; Knott, Charles C; Weir, Bruce B; Maixner, William W; Diatchenko, Luda L
Publication Date: 2013-12

Variant appearance in text: rs6432860
PubMed Link: 24275226
Variant Present in the following documents:
  • Main text
View BVdb publication page



Summary of findings from the OPPERA prospective cohort study of incidence of first-onset temporomandibular disorder: implications and future directions.

The Journal Of Pain
Slade, Gary D GD; Fillingim, Roger B RB; Sanders, Anne E AE; Bair, Eric E; Greenspan, Joel D JD; Ohrbach, Richard R; Dubner, Ronald R; Diatchenko, Luda L; Smith, Shad B SB; Knott, Charles C; Maixner, William W
Publication Date: 2013-12

Variant appearance in text: rs6432860
PubMed Link: 24275219
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs6432860
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page