SCN1A c.264+3440A>G

Variant ID: 2-166926428-T-C

NM_001165963.1(SCN1A):c.264+3440A>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: rs11692675
PubMed Link: 35801810
Variant Present in the following documents:
  • Main text
  • IANN_54_2096257.pdf
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Parallel functional testing identifies enhancers active in early postnatal mouse brain.

Elife
Lambert, Jason T JT; Su-Feher, Linda L; Cichewicz, Karol K; Warren, Tracy L TL; Zdilar, Iva I; Wang, Yurong Y; Lim, Kenneth J KJ; Haigh, Jessica L JL; Morse, Sarah J SJ; Canales, Cesar P CP; Stradleigh, Tyler W TW; Castillo Palacios, Erika E; Haghani, Viktoria V; Moss, Spencer D SD; Parolini, Hannah H; Quintero, Diana D; Shrestha, Diwash D; Vogt, Daniel D; Byrne, Leah C LC; Nord, Alex S AS
Publication Date: 2021-10-04

Variant appearance in text: rs11692675
PubMed Link: 34605404
Variant Present in the following documents:
  • Main text
  • elife-69479.pdf
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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: rs11692675
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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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: rs11692675
PubMed Link: 27245092
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Brain : A Journal Of Neurology
Kasperaviciute, Dalia D; Catarino, Claudia B CB; Matarin, Mar M; Leu, Costin C; Novy, Jan J; Tostevin, Anna A; Leal, Bárbara B; Hessel, Ellen V S EV; Hallmann, Kerstin K; Hildebrand, Michael S MS; Dahl, Hans-Henrik M HH; Ryten, Mina M; Trabzuni, Daniah D; Ramasamy, Adaikalavan A; Alhusaini, Saud S; Doherty, Colin P CP; Dorn, Thomas T; Hansen, Jörg J; Krämer, Günter G; Steinhoff, Bernhard J BJ; Zumsteg, Dominik D; Duncan, Susan S; Kälviäinen, Reetta K RK; Eriksson, Kai J KJ; Kantanen, Anne-Mari AM; Pandolfo, Massimo M; Gruber-Sedlmayr, Ursula U; Schlachter, Kurt K; Reinthaler, Eva M EM; Stogmann, Elisabeth E; Zimprich, Fritz F; Théâtre, Emilie E; Smith, Colin C; O'Brien, Terence J TJ; Meng Tan, K K; Petrovski, Slave S; Robbiano, Angela A; Paravidino, Roberta R; Zara, Federico F; Striano, Pasquale P; Sperling, Michael R MR; Buono, Russell J RJ; Hakonarson, Hakon H; Chaves, João J; Costa, Paulo P PP; Silva, Berta M BM; da Silva, António M AM; de Graan, Pierre N E PN; Koeleman, Bobby P C BP; Becker, Albert A; Schoch, Susanne S; von Lehe, Marec M; Reif, Philipp S PS; Rosenow, Felix F; Becker, Felicitas F; Weber, Yvonne Y; Lerche, Holger H; Rössler, Karl K; Buchfelder, Michael M; Hamer, Hajo M HM; Kobow, Katja K; Coras, Roland R; Blumcke, Ingmar I; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Weale, Michael E ME; , ; Delanty, Norman N; Depondt, Chantal C; Cavalleri, Gianpiero L GL; Kunz, Wolfram S WS; Sisodiya, Sanjay M SM
Publication Date: 2013-10

Variant appearance in text: rs11692675
PubMed Link: 24014518
Variant Present in the following documents:
  • Main text
  • awt233.pdf
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Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up.

Cns Neuroscience & Therapeutics
Zhou, Bo-Ting BT; Zhou, Qiu-Hong QH; Yin, Ji-Ye JY; Li, Guo-Liang GL; Qu, Jian J; Xu, Xiao-Jing XJ; Liu, Ding D; Zhou, Hong-Hao HH; Liu, Zhao-Qian ZQ
Publication Date: 2012-07

Variant appearance in text: rs11692675
PubMed Link: 22591328
Variant Present in the following documents:
  • Main text
View BVdb publication page