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Hyperkalemic periodic paralysis with cardiac dysrhythmia: A novel sodium channel mutation?
Author(s) -
Baquero Jaime L.,
Ayala Ricardo A.,
Wang Jianzhou,
Curless Richard G.,
Feero W. Gregory,
Hoffman Eric P.,
Ebeid Makram R.
Publication year - 1995
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410370320
Subject(s) - periodic paralysis , sodium channel , medicine , paralysis , mutation , cardiology , sodium , physical medicine and rehabilitation , genetics , surgery , biology , chemistry , organic chemistry , gene
A patient is presented with hyperkalemic periodic paralysis (HyperPP) and a cardiac dysrhythmia. An amino acid substitution (Val 783 Ile) 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.