SCN1A c.4033C>T ;(p.P1345S)

Variant ID: 2-166859233-G-A

NM_001165963.1(SCN1A):c.4033C>T;(p.P1345S)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Brünger, Tobias T; Feng, Tony T; Fons, Carmen C; Lehikoinen, Anni A; Panagiotakaki, Eleni E; Vintan, Mihaela-Adela MA; Symonds, Joseph J; Andrew, James J; Arzimanoglou, Alexis A; Delima, Sarah S; Gallois, Julie J; Hanrahan, Donncha D; Lesca, Gaetan G; MacLeod, Stewart S; Marjanovic, Dragan D; McTague, Amy A; Nuñez-Enamorado, Noemi N; Perez-Palma, Eduardo E; Scott Perry, M M; Pysden, Karen K; Russ-Hall, Sophie J SJ; Scheffer, Ingrid E IE; Sully, Krystal K; Syrbe, Steffen S; Vaher, Ulvi U; Velayutham, Murugan M; Vogt, Julie J; Weiss, Shelly S; Wirrell, Elaine E; Zuberi, Sameer M SM; Lal, Dennis D; Møller, Rikke S RS; Mantegazza, Massimo M; Cestèle, Sandrine S
Publication Date: 2022-11-21

Variant appearance in text: SCN1A: P1345S
PubMed Link: 35696452
Variant Present in the following documents:
  • Main text
  • awac210.pdf
View BVdb publication page



Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN1A: P1345S
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



Beyond Dravet Syndrome: Characterization of a Novel, More Severe SCN1A-Linked Epileptic Encephalopathy.

Epilepsy Currents
Beck, Veronica C VC; Hull, Jacob M JM; Isom, Lori L LL
Publication Date: 2019

Variant appearance in text: SCN1A: 4033C>T; Pro1345Ser
PubMed Link: 31257984
Variant Present in the following documents:
  • Main text
  • 10.1177_1535759719858339.pdf
View BVdb publication page



Mutations in SCN3A cause early infantile epileptic encephalopathy.

Annals Of Neurology
Zaman, Tariq T; Helbig, Ingo I; Božović, Ivana Babić IB; DeBrosse, Suzanne D SD; Bergqvist, A Christina AC; Wallis, Kimberly K; Medne, Livija L; Maver, Aleš A; Peterlin, Borut B; Helbig, Katherine L KL; Zhang, Xiaohong X; Goldberg, Ethan M EM
Publication Date: 2018-04

Variant appearance in text: Nav1.1: Pro1345Ser
PubMed Link: 29466837
Variant Present in the following documents:
  • Main text
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: 4033C>T; Pro1345Ser
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page



Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Neurology
Sadleir, Lynette G LG; Mountier, Emily I EI; Gill, Deepak D; Davis, Suzanne S; Joshi, Charuta C; DeVile, Catherine C; Kurian, Manju A MA; , ; Mandelstam, Simone S; Wirrell, Elaine E; Nickels, Katherine C KC; Murali, Hema R HR; Carvill, Gemma G; Myers, Candace T CT; Mefford, Heather C HC; Scheffer, Ingrid E IE
Publication Date: 2017-09-05

Variant appearance in text: SCN1A: 4033C>T; Pro1345Ser
PubMed Link: 28794249
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2016790519.pdf
View BVdb publication page



Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Nature Genetics
Carvill, Gemma L GL; Heavin, Sinéad B SB; Yendle, Simone C SC; McMahon, Jacinta M JM; O'Roak, Brian J BJ; Cook, Joseph J; Khan, Adiba A; Dorschner, Michael O MO; Weaver, Molly M; Calvert, Sophie S; Malone, Stephen S; Wallace, Geoffrey G; Stanley, Thorsten T; Bye, Ann M E AM; Bleasel, Andrew A; Howell, Katherine B KB; Kivity, Sara S; Mackay, Mark T MT; Rodriguez-Casero, Victoria V; Webster, Richard R; Korczyn, Amos A; Afawi, Zaid Z; Zelnick, Nathanel N; Lerman-Sagie, Tally T; Lev, Dorit D; Møller, Rikke S RS; Gill, Deepak D; Andrade, Danielle M DM; Freeman, Jeremy L JL; Sadleir, Lynette G LG; Shendure, Jay J; Berkovic, Samuel F SF; Scheffer, Ingrid E IE; Mefford, Heather C HC
Publication Date: 2013-07

Variant appearance in text: SCN1A: Pro1345Ser
PubMed Link: 23708187
Variant Present in the following documents:
  • Main text
  • nihms474984.pdf
View BVdb publication page