SCN1A c.5348C>T ;(p.A1783V)

Variant ID: 2-166848437-G-A

NM_001165963.1(SCN1A):c.5348C>T;(p.A1783V)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome.

Frontiers In Cellular Neuroscience
Mavashov, Anat A; Brusel, Marina M; Liu, Jiaxing J; Woytowicz, Victoria V; Bae, Haneui H; Chen, Ying-Hsin YH; Dani, Vardhan S VS; Cardenal-Muñoz, Elena E; Spinosa, Vittoria V; Aibar, José Ángel JÁ; Rubinstein, Moran M
Publication Date: 2023

Variant appearance in text: SCN1A: A1783V
PubMed Link: 37206664
Variant Present in the following documents:
  • Main text
  • fncel-17-1149391.pdf
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Viral vector-mediated expression of NaV1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome.

The Journal Of Clinical Investigation
Fadila, Saja S; Beucher, Bertrand B; Dopeso-Reyes, Iria González IG; Mavashov, Anat A; Brusel, Marina M; Anderson, Karen K; Ismeurt, Caroline C; Goldberg, Ethan M EM; Ricobaraza, Ana A; Hernandez-Alcoceba, Ruben R; Kremer, Eric J EJ; Rubinstein, Moran M
Publication Date: 2023-05-16

Variant appearance in text: SCN1A: A1783V
PubMed Link: 37192002
Variant Present in the following documents:
  • jci-133-159316.pdf
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Animal Models of Drug-Resistant Epilepsy as Tools for Deciphering the Cellular and Molecular Mechanisms of Pharmacoresistance and Discovering More Effective Treatments.

Cells
Löscher, Wolfgang W; White, H Steve HS
Publication Date: 2023-04-24

Variant appearance in text: SCN1A: A1783V
PubMed Link: 37174633
Variant Present in the following documents:
  • Main text
View BVdb publication page



SCN1A channelopathies: Navigating from genotype to neural circuit dysfunction.

Frontiers In Neurology
Bryson, Alexander A; Petrou, Steven S
Publication Date: 2023

Variant appearance in text: SCN1A: A1783V
PubMed Link: 37139072
Variant Present in the following documents:
  • Main text
  • fneur-14-1173460.pdf
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Acute effect of antiseizure drugs on background oscillations in Scn1a A1783V Dravet syndrome mouse model.

Frontiers In Pharmacology
Quinn, Shir S; Brusel, Marina M; Ovadia, Mor M; Rubinstein, Moran M
Publication Date: 2023

Variant appearance in text: SCN1A: A1783V
PubMed Link: 37021051
Variant Present in the following documents:
  • Main text
  • fphar-14-1118216.pdf
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Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

Plos Computational Biology
Boßelmann, Christian Malte CM; Hedrich, Ulrike B S UBS; Lerche, Holger H; Pfeifer, Nico N
Publication Date: 2023-03-06

Variant appearance in text: SCN1A: A1783V
PubMed Link: 36877742
Variant Present in the following documents:
  • pcbi.1010959.s004.pdf
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Heterozygous deletion of Gpr55 does not affect a hyperthermia-induced seizure, spontaneous seizures or survival in the Scn1a+/- mouse model of Dravet syndrome.

Plos One
Anderson, Lyndsey L LL; Bahceci, Dilara A DA; Hawkins, Nicole A NA; Everett-Morgan, Declan D; Banister, Samuel D SD; Kearney, Jennifer A JA; Arnold, Jonathon C JC
Publication Date: 2023

Variant appearance in text: Nav1.1: A1783V
PubMed Link: 36701411
Variant Present in the following documents:
  • Main text
  • pone.0280842.pdf
View BVdb publication page



Perspectives on the basis of seizure-induced respiratory dysfunction.

Frontiers In Neural Circuits
Mulkey, Daniel K DK; Milla, Brenda M BM
Publication Date: 2022

Variant appearance in text: SCN1A: A1783V
PubMed Link: 36605420
Variant Present in the following documents:
  • Main text
  • fncir-16-1033756.pdf
View BVdb publication page



Editorial: Ion channels and transporters in epilepsy: From genes and mechanisms to disease-targeted therapies.

Frontiers In Molecular Neuroscience
He, Hailan H; Stauber, Tobias T; Liao, Weiping W; Jiang, Yuwu Y; Yu, Yongguo Y; Peng, Jing J
Publication Date: 2022

Variant appearance in text: SCN1A: A1783V
PubMed Link: 36211977
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.

Nature Communications
Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D
Publication Date: 2022-04-21

Variant appearance in text: SCN1A: A1783V
PubMed Link: 35449156
Variant Present in the following documents:
  • 41467_2022_29857_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Functional Investigation of a Neuronal Microcircuit in the CA1 Area of the Hippocampus Reveals Synaptic Dysfunction in Dravet Syndrome Mice.

Frontiers In Molecular Neuroscience
Almog, Yael Y; Mavashov, Anat A; Brusel, Marina M; Rubinstein, Moran M
Publication Date: 2022

Variant appearance in text: SCN1A: A1783V
PubMed Link: 35370551
Variant Present in the following documents:
  • Main text
  • fnmol-15-823640.pdf
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs121917921
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs121917921
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Endocannabinoid-Mediated Control of Neural Circuit Excitability and Epileptic Seizures.

Frontiers In Neural Circuits
Sugaya, Yuki Y; Kano, Masanobu M
Publication Date: 2021

Variant appearance in text: SCN1A: A1783V
PubMed Link: 35046779
Variant Present in the following documents:
  • Main text
  • fncir-15-781113.pdf
View BVdb publication page



Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe.

Epilepsia Open
Cardenal-Muñoz, Elena E; Auvin, Stéphane S; Villanueva, Vicente V; Cross, J Helen JH; Zuberi, Sameer M SM; Lagae, Lieven L; Aibar, José Ángel JÁ
Publication Date: 2022-03

Variant appearance in text: SCN1A: A1783V
PubMed Link: 34882995
Variant Present in the following documents:
  • EPI4-7-11.pdf
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Transfer of SCN1A to the brain of adolescent mouse model of Dravet syndrome improves epileptic, motor, and behavioral manifestations.

Molecular Therapy. Nucleic Acids
Mora-Jimenez, Lucia L; Valencia, Miguel M; Sanchez-Carpintero, Rocio R; Tønnesen, Jan J; Fadila, Saja S; Rubinstein, Moran M; Gonzalez-Aparicio, Manuela M; Bunuales, Maria M; Fernandez-Pierola, Eva E; Nicolas, Maria Jesus MJ; Puerta, Elena E; Miguelez, Cristina C; Minguez, Paula Gimenez PG; Lumbreras, Sara S; Gonzalez-Aseguinolaza, Gloria G; Ricobaraza, Ana A; Hernandez-Alcoceba, Ruben R
Publication Date: 2021-09-03

Variant appearance in text: SCN1A: A1783V
PubMed Link: 34589280
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Development of an antiseizure drug screening platform for Dravet syndrome at the NINDS contract site for the Epilepsy Therapy Screening Program.

Epilepsia
Pernici, Chelsea D CD; Mensah, Jeffrey A JA; Dahle, E Jill EJ; Johnson, Kristina J KJ; Handy, Laura L; Buxton, Lauren L; Smith, Misty D MD; West, Peter J PJ; Metcalf, Cameron S CS; Wilcox, Karen S KS
Publication Date: 2021-07

Variant appearance in text: SCN1A: A1783V
PubMed Link: 34002394
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuropathological Characterization of a Dravet Syndrome Knock-In Mouse Model Useful for Investigating Cannabinoid Treatments.

Frontiers In Molecular Neuroscience
Satta, Valentina V; Alonso, Cristina C; Díez, Paula P; Martín-Suárez, Soraya S; Rubio, Marta M; Encinas, Juan M JM; Fernández-Ruiz, Javier J; Sagredo, Onintza O
Publication Date: 2020

Variant appearance in text: SCN1A: A1783V
PubMed Link: 33584198
Variant Present in the following documents:
  • Main text
  • fnmol-13-602801.pdf
View BVdb publication page



Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.

Journal Of Neurochemistry
Turner, Thomas J TJ; Zourray, Clara C; Schorge, Stephanie S; Lignani, Gabriele G
Publication Date: 2021-04

Variant appearance in text: SCN1A: A1783V
PubMed Link: 32880951
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alterations of the Hippocampal Neurogenic Niche in a Mouse Model of Dravet Syndrome.

Frontiers In Cell And Developmental Biology
Martín-Suárez, Soraya S; Abiega, Oihane O; Ricobaraza, Ana A; Hernandez-Alcoceba, Rubén R; Encinas, Juan Manuel JM
Publication Date: 2020

Variant appearance in text: SCN1A: A1783V
PubMed Link: 32793597
Variant Present in the following documents:
  • Main text
  • fcell-08-00654.pdf
  • Data_Sheet_1.pdf
View BVdb publication page



Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.

International Journal Of Molecular Sciences
Paulhus, Kelsey K; Ammerman, Lauren L; Glasscock, Edward E
Publication Date: 2020-04-17

Variant appearance in text: SMEI: A1783V
PubMed Link: 32316562
Variant Present in the following documents:
  • Main text
  • ijms-21-02802.pdf
View BVdb publication page



Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation.

Scientific Reports
Ricobaraza, Ana A; Mora-Jimenez, Lucia L; Puerta, Elena E; Sanchez-Carpintero, Rocio R; Mingorance, Ana A; Artieda, Julio J; Nicolas, Maria Jesus MJ; Besne, Guillermo G; Bunuales, Maria M; Gonzalez-Aparicio, Manuela M; Sola-Sevilla, Noemi N; Valencia, Miguel M; Hernandez-Alcoceba, Ruben R
Publication Date: 2019-10-02

Variant appearance in text: SCN1A: A1783V
PubMed Link: 31578435
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_50627.pdf
  • 41598_2019_50627_MOESM1_ESM.pdf
View BVdb publication page



A more efficient conditional mouse model of Dravet syndrome: Implications for epigenetic selection and sex-dependent behaviors.

Journal Of Neuroscience Methods
Williams, Aaron D AD; Kalume, Franck F; Westenbroek, Ruth E RE; Catterall, William A WA
Publication Date: 2019-09-01

Variant appearance in text: SCN1A: A1783V
PubMed Link: 31265868
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mitochondrial Regulation of the Hippocampal Firing Rate Set Point and Seizure Susceptibility.

Neuron
Styr, Boaz B; Gonen, Nir N; Zarhin, Daniel D; Ruggiero, Antonella A; Atsmon, Refaela R; Gazit, Neta N; Braun, Gabriella G; Frere, Samuel S; Vertkin, Irena I; Shapira, Ilana I; Harel, Michal M; Heim, Leore R LR; Katsenelson, Maxim M; Rechnitz, Ohad O; Fadila, Saja S; Derdikman, Dori D; Rubinstein, Moran M; Geiger, Tamar T; Ruppin, Eytan E; Slutsky, Inna I
Publication Date: 2019-06-05

Variant appearance in text: SCN1A: A1783V
PubMed Link: 31047779
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disordered breathing in a mouse model of Dravet syndrome.

Elife
Kuo, Fu-Shan FS; Cleary, Colin M CM; LoTurco, Joseph J JJ; Chen, Xinnian X; Mulkey, Daniel K DK
Publication Date: 2019-04-26

Variant appearance in text: Nav1.1: A1783V
PubMed Link: 31025941
Variant Present in the following documents:
  • Main text
  • elife-43387.pdf
View BVdb publication page



The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

European Journal Of Human Genetics : Ejhg
Papuc, Sorina M SM; Abela, Lucia L; Steindl, Katharina K; Begemann, Anaïs A; Simmons, Thomas L TL; Schmitt, Bernhard B; Zweier, Markus M; Oneda, Beatrice B; Socher, Eileen E; Crowther, Lisa M LM; Wohlrab, Gabriele G; Gogoll, Laura L; Poms, Martin M; Seiler, Michelle M; Papik, Michael M; Baldinger, Rosa R; Baumer, Alessandra A; Asadollahi, Reza R; Kroell-Seger, Judith J; Schmid, Regula R; Iff, Tobias T; Schmitt-Mechelke, Thomas T; Otten, Karoline K; Hackenberg, Annette A; Addor, Marie-Claude MC; Klein, Andrea A; Azzarello-Burri, Silvia S; Sticht, Heinrich H; Joset, Pascal P; Plecko, Barbara B; Rauch, Anita A
Publication Date: 2019-03

Variant appearance in text: SCN1A: 5348C>T; Ala1783Val
PubMed Link: 30552426
Variant Present in the following documents:
  • Main text
  • 41431_2018_Article_299.pdf
View BVdb publication page



Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Pediatric Neurology
Butler, Kameryn M KM; da Silva, Cristina C; Alexander, John J JJ; Hegde, Madhuri M; Escayg, Andrew A
Publication Date: 2017-12

Variant appearance in text: SCN1A: 5348C>T; Ala1783Val
PubMed Link: 29056246
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: 5348C>T; Ala1783Val
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.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: A1783V
PubMed Link: 28150151
Variant Present in the following documents:
  • 13238_2017_Article_372.pdf
View BVdb publication page



The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ
Publication Date: 2016-10-18

Variant appearance in text: SCN1A: A1783V
PubMed Link: 27612425
Variant Present in the following documents:
  • oncotarget-07-68638-s008.xlsx, sheet 1
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: A1783V; rs121917921
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: A1783V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: SCN1A: A1783V
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.

Epilepsia
Klassen, Tara L TL; Bomben, Valerie C VC; Patel, Ankita A; Drabek, Janice J; Chen, Tim T TT; Gu, Wenli W; Zhang, Feng F; Chapman, Kevin K; Lupski, James R JR; Noebels, Jeffrey L JL; Goldman, A M AM
Publication Date: 2014-02

Variant appearance in text: Nav1.1: A1783V
PubMed Link: 24372310
Variant Present in the following documents:
  • Main text
View BVdb publication page