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: SCN4A: 3917G>A; Gly1306Glu
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
Structural basis of cytoplasmic NaV1.5 and NaV1.4 regulation.
The Journal Of General Physiology
Nathan, Sara S; Gabelli, Sandra B SB; Yoder, Jesse B JB; Srinivasan, Lakshmi L; Aldrich, Richard W RW; Tomaselli, Gordon F GF; Ben-Johny, Manu M; Amzel, L Mario LM
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12
Variant appearance in text: SCN4A: 3917G>A; G1306E
Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.
Plos One
Zhao, Chenyu C; Tang, DongFang D; Huang, Hui H; Tang, Haiyan H; Yang, Yuan Y; Yang, Min M; Luo, Yingying Y; Tao, Huai H; Tang, Jianguang J; Zhou, Xi X; Shi, Xiaoliu X
Possible role of SCN4A skeletal muscle mutation in apnea during seizure.
Epilepsia Open
Türkdoğan, Dilşad D; Matthews, Emma E; Usluer, Sunay S; Gündoğdu, Aslı A; Uluç, Kayıhan K; Mannikko, Roope R; Hanna, Michael G MG; Sisodiya, Sanjay M SM; Çağlayan, Hande S HS
Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature.
Frontiers In Neurology
Cavalli, Michele M; Fossati, Barbara B; Vitale, Raffaele R; Brigonzi, Elisa E; Ricigliano, Vito A G VAG; Saraceno, Lorenzo L; Cardani, Rosanna R; Pappone, Carlo C; Meola, Giovanni G
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Lehmann-Horn, Frank F; D'Amico, Adele A; Bertini, Enrico E; Lomonaco, Mauro M; Merlini, Luciano L; Nelson, Kevin R KR; Philippi, Heike H; Siciliano, Gabriele G; Spaans, Frank F; Jurkat-Rott, Karin K
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Lancet (London, England)
Männikkö, Roope R; Wong, Leonie L; Tester, David J DJ; Thor, Michael G MG; Sud, Richa R; Kullmann, Dimitri M DM; Sweeney, Mary G MG; Leu, Costin C; Sisodiya, Sanjay M SM; FitzPatrick, David R DR; Evans, Margaret J MJ; Jeffrey, Iona J M IJM; Tfelt-Hansen, Jacob J; Cohen, Marta C MC; Fleming, Peter J PJ; Jaye, Amie A; Simpson, Michael A MA; Ackerman, Michael J MJ; Hanna, Michael G MG; Behr, Elijah R ER; Matthews, Emma E
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.
Brain : A Journal Of Neurology
Matthews, E E; Fialho, D D; Tan, S V SV; Venance, S L SL; Cannon, S C SC; Sternberg, D D; Fontaine, B B; Amato, A A AA; Barohn, R J RJ; Griggs, R C RC; Hanna, M G MG; ,
Epicardial border zone overexpression of skeletal muscle sodium channel SkM1 normalizes activation, preserves conduction, and suppresses ventricular arrhythmia: an in silico, in vivo, in vitro study.
Circulation
Lau, David H DH; Clausen, Chris C; Sosunov, Eugene A EA; Shlapakova, Iryna N IN; Anyukhovsky, Evgeny P EP; Danilo, Peter P; Rosen, Tove S TS; Kelly, Caitlin C; Duffy, Heather S HS; Szabolcs, Matthias J MJ; Chen, Ming M; Robinson, Richard B RB; Lu, Jia J; Kumari, Sinhu S; Cohen, Ira S IS; Rosen, Michael R MR
The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralytic.
Genetics
Lindsay, Helen A HA; Baines, Richard R; ffrench-Constant, Richard R; Lilley, Kathryn K; Jacobs, Howard T HT; O'Dell, Kevin M C KM