Results 81 to 90 of about 2,332 (142)

A Novel Mutation in the SCN4A Gene in a Japanese Family with Paramyotonia Congenita [PDF]

, 2014
Paramyotoniacongenita is an autosomal-dominant muscle disease caused by missense mutations in SCN4A, the gene enconding the alpha subunit of skeletal muscle sodium channel.
高橋, 悟, Takahashi, Satoru, タカハシ, サトル, Azuma, Hiroshi, 田中, 亮介, 梶野, 浩樹, オカヤマ, アキエ, 荒木, 章子, Kajino, Hiroki, Araki, Akiko, 岡山, 亜貴恵, 東, 寛, Okayama, Akie, アラキ, アキコ, アズマ, ヒロシ, カジノ, ヒロキ, Yamamoto, Shiho, Tanaka, Ryosuke, 山本, 志保, ヤマモト, シホ, タナカ, リョウスケ   +20 more
core   +1 more source

Functional study of a novel SCN4A variant c.611C>T identified in a Japanese patient with myasthenia

Frontiers in Biophysics
Recent advances in sequencing technologies have significantly contributed to the identification of disease-associated gene variants. However, a substantial number of patients, particularly those presenting with atypical neuromuscular phenotypes, remain ...
Natsuki Kira, Kosuke Yoshida, Kosuke Yoshida, Satoe Takahashi, Ayami Yamanaka, Takashi Kimura, Kazuaki Homma, Kazuaki Homma, Masanori P. Takahashi, Masanori P. Takahashi, Tomoya Kubota   +10 more
doaj   +1 more source

A Case of Congenital Paramyotonia with Atypical Features in a Family with a New Variation of SCN4A Gene

, 2018
SCN4A variations have been identified in various neuromuscular disorders, which are collectively named “sodium channelopathies”. Abstract We report the case of a patient who presented paramyotonia congenita with motor paroxysmal episodes since the ...
Grazia Gabriella Salerno, Daniele Frattini, Carlotta Spagnoli, Pisani Francesco, Fusco Carlo, Elena Pavlidis   +5 more
core  

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.

, 2010
International audienceBACKGROUND: Myotonia is unusual in infants, and not well-known. METHODS: We describe neonatal life-threatening features of myotonia caused by de novo mutations in the muscle sodium channel gene SCN4A.
Billette de Villemeur, T., B. Fontaine, T. Billette de Villemeur, Landrieu, P., S. Napuri, Lion-Francois, L., Broussolle, E., Fontaine, B., D. Sternberg, P. Landrieu, Vicart, S., Des Portes, V., L. Lion-Francois, V. Manel, Napuri, S., G. Lesca, Mignot, C., Sternberg, D., Manel, V., Lesca, G., S. Vicart, C. Mignot, E. Broussolle, V. des Portes   +23 more
core   +1 more source

Sex linkage of the skeletal muscle sodium channel gene (SCN4A) explains apparent deviations from Hardy–Weinberg equilibrium of tetrodotoxin-resistance alleles in garter snakes (Thamnophis sirtalis)

, 2020
The arms race between tetrodotoxin-bearing Pacific newts (Taricha) and their garter snake predators (Thamnophis) in western North America has become a classic example of coevolution, shedding light on predator-prey dynamics, the molecular basis of ...
Brodie, Edmund D. III, Edmund D. Brodie, Chris R. Feldman, McGlothlin, Joel W., Feldman, Chris R., Brodie, Edmund D., Jr., Michael T. J. Hague, Hague, Michael T. J., Gendreau, Kerry L., Joel W. McGlothlin, Kerry L. Gendreau   +10 more
core   +1 more source

Genetic analysis and clinical features of familial hypokalemic periodic paralysis

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Background To investigate the gene mutation and clinical features of hypokalemic periodic paralysis (HypoPP) in a Han family. Methods Mutation analyses of CACNA1S, SCN4A and KCNE3 gene were screened by DNA direct sequencing in the proband (Ⅲ3). Then,
Hui-li ZHANG, Yi-ming SUN, Min-ying ZHENG, Yu-ling ZHU, Ji-qing CAO, Yu ZHANG, Ya-qin LI, Lang-hui DENG, Cheng ZHANG   +8 more
doaj  

Paralysis periodica paramyotonica에서 골격근 나트륨 통로 단백질 (SCN4A) 유전자의 다형성 분석

, 2001
학위논문(박사) - 한국과학기술원 : 생물과학과, 2001, [ vi, 67 p. ]Patients with paralysis periodica paramyotonica (PPP) exhibit a clinical syndrome with characteristics of both hyperkalemic periodic paralysis (HyperPP) and paramyotonia congenita.
Kim, Jei, 김제
core   +1 more source

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis

, 2004
BACKGROUND: Periodic paralysis is classified into hypokalemic (hypoPP) and hyperkalemic (hyperPP) periodic paralysis according to variations of blood potassium levels during attacks.
Hainque, B., Vicart, S., Kuntzer, T., Fournier, E., Eymard, B., Fontaine, B., Ochsner, F., Laforet, P., Sternberg, D.   +8 more
core   +1 more source

Parálisis periódica hipocalémica familiar (PPHF): reporte de un caso y revisión del tema Periodic familial hypoaklemic paralysis: report of a case and review of the literature

Iatreia, 2002
La parálisis periódica hipocalémica familiar es una enfermedad que pertenece al grupo de las canalopatías. Consiste en la presentación de episodios de parálisis muscular progresivos en intensidad y frecuencia acompañada de hipocalemia.
José William Cornejo Ochoa, Margarita María Vélez M., Jaime Carrizosa Moog   +2 more
doaj  

SCN4A Channelopathies: From Disease Mechanisms to Variant Interpretation. [PDF]

Genes (Basel)
D'Ambrosio P, Cipriano L, Pugliese A, Petillo R, Ricciardi D, Habetswallner F, Rodolico C, Priolo M.   +7 more
europepmc   +1 more source