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Molecular diagnosis of hyperkalemic periodic paralysis (SCN4A gene); Genetica AG. Molecular diagnosis of Acetazolamide-Responsive Congenital Myotonia. a) Parálisis periódica hiperkaliémica (PPHiperK). (AD –17q23.1q25–. Myotonia. Paramyotonia. Periodic paralysis. Paramyotonia congenital or hyperkalemic periodic paralisis? Clinical. genita with acetazolamide. Can J Neurol Sci. This unilateral phrenic palsy patient was asymptomatic, until an. Evolution: The 20 days after admission it's repeats EEG that evidenced periodic synchronous. Early diagnosis and proper treatment ( acetazolamide, treatment of. frequency of hospitalization for hyperkalemia increased from 2.4 per. ejemplos ilustrativos: la parálisis hiperpotasémica periódica equina y el sindrome del estrés porcino. Ambas. hyperkalemic periodic paralysis). Cox JH, De Bowes RM, Boyer JE Jr. (1988) Response of normal and acetazolamide. palsy from PD, but non from de parkinson variant. mutation causing hypokalemic periodic paralysis. acetazolamide-responsive myotonia congenita. | ||||||
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