Literature DB >> 11757950

Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation.

S Okuda, F Kanda, K Nishimoto, R Sasaki, K Chihara.   

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Year:  2001        PMID： 11757950     DOI： 10.1007/s004150170059

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  10 in total

1.  N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.

Authors:  Qing Ke; Jia Ye; Siyang Tang; Jin Wang; Benyan Luo; Fang Ji; Xu Zhang; Ye Yu; Xiaoyang Cheng; Yuezhou Li
Journal:  J Physiol       Date:  2017-10-15       Impact factor: 5.182

Review 2.  Mutational consequences of aberrant ion channels in neurological disorders.

Authors:  Dhiraj Kumar; Rashmi K Ambasta; Pravir Kumar
Journal:  J Membr Biol       Date:  2014-08-14       Impact factor: 1.843

3.  Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.

Authors:  Dina Simkin; Isabelle Léna; Pierre Landrieu; Laurence Lion-François; Damien Sternberg; Bertrand Fontaine; Saïd Bendahhou
Journal:  J Physiol       Date:  2011-04-26       Impact factor: 5.182

Review 4.  Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.

Authors:  Karin Jurkat-Rott; Frank Lehmann-Horn
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620

5.  Skeletal muscle na channel disorders.

Authors:  Dina Simkin; Saïd Bendahhou
Journal:  Front Pharmacol       Date:  2011-10-14       Impact factor: 5.810

6.  Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A.

Authors:  Ji-Yeon Han; June-Bum Kim
Journal:  Korean J Pediatr       Date:  2011-11-30

7.  Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.

Authors:  Silvia Corrochano; Roope Männikkö; Peter I Joyce; Philip McGoldrick; Jessica Wettstein; Glenda Lassi; Dipa L Raja Rayan; Gonzalo Blanco; Colin Quinn; Andrianos Liavas; Arimantas Lionikas; Neta Amior; James Dick; Estelle G Healy; Michelle Stewart; Sarah Carter; Marie Hutchinson; Liz Bentley; Pietro Fratta; Andrea Cortese; Roger Cox; Steve D M Brown; Valter Tucci; Henning Wackerhage; Anthony A Amato; Linda Greensmith; Martin Koltzenburg; Michael G Hanna; Abraham Acevedo-Arozena
Journal:  Brain       Date:  2014-10-27       Impact factor: 13.501

Review 8.  Thyrotoxic periodic paralysis: an overview.

Authors:  Chang-Hsun Hsieh; Shi-Wen Kuo; Dee Pei; Yi-Jen Hung; Sandra Chyi-Fan; Ling-I Wu; Chih-Tsueng He; Tsao-Chin Yang; Wei-Cheng Lian; Lee Chien-Hsing
Journal:  Ann Saudi Med       Date:  2004 Nov-Dec       Impact factor: 1.526

9.  [I1363T mutation induces the defects in fast inactivation of human skeletal muscle voltage-gated sodium channel].

Authors:  Siyang Tang; Jia Ye; Yuezhou Li
Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban       Date:  2019-05-25

Review 10.  Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Authors:  Gildas Loussouarn; Damien Sternberg; Sophie Nicole; Céline Marionneau; Francoise Le Bouffant; Gilles Toumaniantz; Julien Barc; Olfat A Malak; Véronique Fressart; Yann Péréon; Isabelle Baró; Flavien Charpentier
Journal:  Front Pharmacol       Date:  2016-01-14       Impact factor: 5.810
  10 in total

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