Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.
Medrxiv : The Preprint Server For Health Sciences
, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF
Publication Date: 2023-02-24
Variant appearance in text: SCN4A: 3205G>A; Asp1069Asn
GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.
Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06
Variant appearance in text: SCN4A: D1069N; rs373150395
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
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Brain : A Journal Of Neurology
Zaharieva, Irina T IT; Thor, Michael G MG; Oates, Emily C EC; van Karnebeek, Clara C; Hendson, Glenda G; Blom, Eveline E; Witting, Nanna N; Rasmussen, Magnhild M; Gabbett, Michael T MT; Ravenscroft, Gianina G; Sframeli, Maria M; Suetterlin, Karen K; Sarkozy, Anna A; D'Argenzio, Luigi L; Hartley, Louise L; Matthews, Emma E; Pitt, Matthew M; Vissing, John J; Ballegaard, Martin M; Krarup, Christian C; Slørdahl, Andreas A; Halvorsen, Hanne H; Ye, Xin Cynthia XC; Zhang, Lin-Hua LH; Løkken, Nicoline N; Werlauff, Ulla U; Abdelsayed, Mena M; Davis, Mark R MR; Feng, Lucy L; Phadke, Rahul R; Sewry, Caroline A CA; Morgan, Jennifer E JE; Laing, Nigel G NG; Vallance, Hilary H; Ruben, Peter P; Hanna, Michael G MG; Lewis, Suzanne S; Kamsteeg, Erik-Jan EJ; Männikkö, Roope R; Muntoni, Francesco F