Literature DB >> 7695243

Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation?

J L Baquero1, R A Ayala, J Wang, R G Curless, W G Feero, E P Hoffman, M R Ebeid.   

Abstract

A patient is presented with hyperkalemic periodic paralysis (HyperPP) and a cardiac dysrhythmia. An amino acid substitution (Val783Ile) in the adult skeletal muscle sodium channel gene was detected. Although lack of available family members precluded rigorous genetic tests, the sodium channel change may be responsible for HyperPP in this patient and could also be responsible for the associated cardiac dysrhythmia.

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Year:  1995        PMID: 7695243     DOI: 10.1002/ana.410370320

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  5 in total

1.  SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.

Authors:  Véronique Bissay; Sophie C H Van Malderen; Kathelijn Keymolen; Willy Lissens; Uschi Peeters; Dorien Daneels; Anna C Jansen; Gudrun Pappaert; Pedro Brugada; Jacques De Keyser; Sonia Van Dooren
Journal:  Eur J Hum Genet       Date:  2015-06-03       Impact factor: 4.246

Review 2.  Investigation of muscle disease.

Authors:  F L Mastaglia; N G Laing
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-03       Impact factor: 10.154

3.  Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

Authors:  S Bendahhou; T R Cummins; R Tawil; S G Waxman; L J Ptácek
Journal:  J Neurosci       Date:  1999-06-15       Impact factor: 6.167

4.  Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.

Authors:  Guo Xiuhai; Wu Weiping; Zhu Ke; Wang Hongbin; Si Yiling
Journal:  Cell Mol Neurobiol       Date:  2007-11-29       Impact factor: 5.046

5.  Skeletal muscle na channel disorders.

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

  5 in total

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