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: 2014C>G; Arg672Gly
Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report.
Cureus
Benítez-Alonso, Edmar O EO; López-Hernández, Juan C JC; Galnares-Olalde, Javier A JA; Alcalá, Raúl E RE; Vargas-Cañas, Edwin S ES
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
Confirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review.
Electrolyte & Blood Pressure : E & Bp
Kim, Hae Ri HR; Jeon, Jae Wan JW; Lee, Eu Jin EJ; Ham, Young Rok YR; Na, Ki Ryang KR; Lee, Kang Wook KW; Park, Kee Hong KH; Kim, Seon Young SY; Choi, Dae Eun DE
Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Nav1.4 Channel.
Frontiers In Pharmacology
Myshkin, Mikhail Yu MY; Männikkö, Roope R; Krumkacheva, Olesya A OA; Kulbatskii, Dmitrii S DS; Chugunov, Anton O AO; Berkut, Antonina A AA; Paramonov, Alexander S AS; Shulepko, Mikhail A MA; Fedin, Matvey V MV; Hanna, Michael G MG; Kullmann, Dimitri M DM; Bagryanskaya, Elena G EG; Arseniev, Alexander S AS; Kirpichnikov, Mikhail P MP; Lyukmanova, Ekaterina N EN; Vassilevski, Alexander A AA; Shenkarev, Zakhar O ZO
NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers.
Scientific Reports
Bayless-Edwards, Landon L; Winston, Vern V; Lehmann-Horn, Frank F; Arinze, Paula P; Groome, James R JR; Jurkat-Rott, Karin K
Proceedings Of The National Academy Of Sciences Of The United States Of America
Männikkö, Roope R; Shenkarev, Zakhar O ZO; Thor, Michael G MG; Berkut, Antonina A AA; Myshkin, Mikhail Yu MY; Paramonov, Alexander S AS; Kulbatskii, Dmitrii S DS; Kuzmin, Dmitry A DA; Sampedro Castañeda, Marisol M; King, Louise L; Wilson, Emma R ER; Lyukmanova, Ekaterina N EN; Kirpichnikov, Mikhail P MP; Schorge, Stephanie S; Bosmans, Frank F; Hanna, Michael G MG; Kullmann, Dimitri M DM; Vassilevski, Alexander A AA
Review of the Diagnosis and Treatment of Periodic Paralysis.
Muscle & Nerve
Statland, Jeffrey M JM; Fontaine, Bertrand B; Hanna, Michael G MG; Johnson, Nicholas E NE; Kissel, John T JT; Sansone, Valeria A VA; Shieh, Perry B PB; Tawil, Rabi N RN; Trivedi, Jaya J; Cannon, Stephen C SC; Griggs, Robert C RC
K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Jurkat-Rott, Karin K; Weber, Marc-André MA; Fauler, Michael M; Guo, Xiu-Hai XH; Holzherr, Boris D BD; Paczulla, Agathe A; Nordsborg, Nikolai N; Joechle, Wolfgang W; Lehmann-Horn, Frank F
Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis.
The Journal Of General Physiology
Struyk, Arie F AF; Markin, Vladislav S VS; Francis, David D; Cannon, Stephen C SC
Myasthenic syndrome caused by mutation of the SCN4A sodium channel.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Tsujino, Akira A; Maertens, Chantal C; Ohno, Kinji K; Shen, Xin-Ming XM; Fukuda, Taku T; Harper, C Michael CM; Cannon, Stephen C SC; Engel, Andrew G AG
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Jurkat-Rott, K K; Mitrovic, N N; Hang, C C; Kouzmekine, A A; Iaizzo, P P; Herzog, J J; Lerche, H H; Nicole, S S; Vale-Santos, J J; Chauveau, D D; Fontaine, B B; Lehmann-Horn, F F