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