SCN1A c.563A>T ;(p.D188V)

Variant ID: 2-166911187-T-A

NM_001165963.1(SCN1A):c.563A>T;(p.D188V)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: SCN1A: 563A>T; Asp188Val
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-Generation Sequencing Technique.

Balkan Medical Journal
Atlı, Engin E; Gürkan, Hakan H; Güldiken, Babürhan B; Eker, Damla D; Yalçıntepe, Sinem S; Demir, Selma S; Atlı, Emine İkbal Eİ
Publication Date: 2022-11-14

Variant appearance in text: SCN1A: D188V
PubMed Link: 36374051
Variant Present in the following documents:
  • Main text
  • BMJ-40-13.pdf
View BVdb publication page



Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)
Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G
Publication Date: 2022-09-01

Variant appearance in text: Nav1.1: D188V
PubMed Link: 36102617
Variant Present in the following documents:
  • develop-149-198853-s1.pdf
View BVdb publication page



Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal
Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H
Publication Date: 2022-04

Variant appearance in text: SCN1A: D188V
PubMed Link: 35550340
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Frontiers In Neurology
Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I
Publication Date: 2019

Variant appearance in text: SCN1A: 563A>T; D188V
PubMed Link: 31001185
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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

Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10

Variant appearance in text: SCN1A: 563A>T; Asp188Val
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page



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

Neurology. Genetics
Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF
Publication Date: 2017-08

Variant appearance in text: SCN1A: 563A>T; D188V
PubMed Link: 28717674
Variant Present in the following documents:
  • supp_3.4.e163_Table_e-1.xlsx, sheet 1
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: Nav1.1: D188V
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



Generation of Febrile Seizures and Subsequent Epileptogenesis.

Neuroscience Bulletin
Feng, Bo B; Chen, Zhong Z
Publication Date: 2016-10

Variant appearance in text: SCN1A: D188V
PubMed Link: 27562688
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: SMEI: D188V; rs121917953
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SCN1A: D188V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Peripheral nerve injury is accompanied by chronic transcriptome-wide changes in the mouse prefrontal cortex.

Molecular Pain
Alvarado, Sebastian S; Tajerian, Maral M; Millecamps, Magali M; Suderman, Mathew M; Stone, Laura S LS; Szyf, Moshe M
Publication Date: 2013-04-18

Variant appearance in text: SCN1A: D188V
PubMed Link: 23597049
Variant Present in the following documents:
  • Main text
View BVdb publication page



Voltage-gated sodium channels: pharmaceutical targets via anticonvulsants to treat epileptic syndromes.

Channels (Austin, Tex.)
Abdelsayed, Mena M; Sokolov, Stanislav S
Publication Date: 2013

Variant appearance in text: SCN1A: D188V
PubMed Link: 23531742
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neurological perspectives on voltage-gated sodium channels.

Brain : A Journal Of Neurology
Eijkelkamp, Niels N; Linley, John E JE; Baker, Mark D MD; Minett, Michael S MS; Cregg, Roman R; Werdehausen, Robert R; Rugiero, François F; Wood, John N JN
Publication Date: 2012-09

Variant appearance in text: SCN1A: D188V
PubMed Link: 22961543
Variant Present in the following documents:
  • Main text
  • aws225.pdf
View BVdb publication page



Sodium channel SCN1A and epilepsy: mutations and mechanisms.

Epilepsia
Escayg, Andrew A; Goldin, Alan L AL
Publication Date: 2010-09

Variant appearance in text: SCN1A: D188V
PubMed Link: 20831750
Variant Present in the following documents:
  • Main text
View BVdb publication page



NaV1.1 channels and epilepsy.

The Journal Of Physiology
Catterall, William A WA; Kalume, Franck F; Oakley, John C JC
Publication Date: 2010-06-01

Variant appearance in text: SMEI: D188V
PubMed Link: 20194124
Variant Present in the following documents:
  • Main text
View BVdb publication page



An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Barela, Arthur J AJ; Waddy, Salina P SP; Lickfett, Jay G JG; Hunter, Jessica J; Anido, Aimee A; Helmers, Sandra L SL; Goldin, Alan L AL; Escayg, Andrew A
Publication Date: 2006-03-08

Variant appearance in text: SCN1A: D188V
PubMed Link: 16525050
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sodium channel mutations in epilepsy and other neurological disorders.

The Journal Of Clinical Investigation
Meisler, Miriam H MH; Kearney, Jennifer A JA
Publication Date: 2005-08

Variant appearance in text: SCN1A: D188V
PubMed Link: 16075041
Variant Present in the following documents:
  • Main text
View BVdb publication page



A plethora of SCN1A mutations: what can they tell us?

Epilepsy Currents
Wallace, Robyn R
Publication Date: 2005

Variant appearance in text: SCN1A: D188V
PubMed Link: 16059449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

American Journal Of Human Genetics
Wallace, R H RH; Scheffer, I E IE; Barnett, S S; Richards, M M; Dibbens, L L; Desai, R R RR; Lerman-Sagie, T T; Lev, D D; Mazarib, A A; Brand, N N; Ben-Zeev, B B; Goikhman, I I; Singh, R R; Kremmidiotis, G G; Gardner, A A; Sutherland, G R GR; George, A L AL; Mulley, J C JC; Berkovic, S F SF
Publication Date: 2001-04

Variant appearance in text:
PubMed Link: 11254444
Variant Present in the following documents:
  • Main text
View BVdb publication page