منابع مشابه
The primary periodic paralyses: diagnosis, pathogenesis and treatment.
Periodic paralyses (PPs) are rare inherited channelopathies that manifest as abnormal, often potassium (K)-sensitive, muscle membrane excitability leading to episodic flaccid paralysis. Hypokalaemic (HypoPP) and hyperkalaemic PP and Andersen-Tawil syndrome are genetically heterogeneous. Over the past decade mutations in genes encoding three ion channels, CACN1AS, SCN4A and KCNJ2, have been iden...
متن کاملPeriodic paralyses: when channels go wrong.
In 1865, Claude Bernard wrote that ‘the constancy of the internal milieu is the essential condition to a free and independent life’ [1]. It would be hard to find a more illustrative paradigm for that statement than for the case of hyperkalaemic periodic paralysis (HyperPP) reported by Grgic et al. in this issue [2]. A 14-year-old male was admitted for a sudden ascending paralysis involving the ...
متن کاملA summary review of the diagnosis and pathology of the primary familial periodic paralyses.
This review of the primary familial periodic paralyses (PFPP) summarizes the pertinent clinical and laboratory findings of the three forms of this dis order. The review is intended to highlight diagnostic features of PFPP and to discuss current hypotheses regarding pathogenesis.
متن کاملCorrelating phenotype and genotype in the periodic paralyses.
BACKGROUND Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. Mutations in sodium, calcium, and potassium channels have been recognized as causing disease. OBJECTIVE To analyze the clinical phenotype of patients with and without discernible genotype and to identify other mutations in ion channel genes associated with disease. METHODS Th...
متن کاملSleep complaints in periodic paralyses: a web survey.
Neuronal potassium conductance has been shown to influence the sleep-wake cycle and REM sleep homeostasis. The periodic paralyses (PP) are characterized by episodes of muscular weakness associated with changes in serum potassium levels and, therefore, with possible alterations in extracellular neuronal potassium conductance. We submitted a sleep questionnaire to the members of Periodic Paralysi...
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ژورنال
عنوان ژورنال: Acta Neurologica Scandinavica
سال: 2008
ISSN: 0001-6314,1600-0404
DOI: 10.1111/j.1600-0404.2007.00963.x