Article
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.
Journal of neurology, neurosurgery, and psychiatry - 1 Sept 2003
Brancati F, Valente E M, Davies N P, Sarkozy A, Sweeney M G, LoMonaco M, Pizzuti A, Hanna M G, Dallapiccola B
Abstract excerpt
The authors describe an Italian kindred with nine individuals affected by hyperkalaemic periodic paralysis associated with paramyotonia congenita (hyperPP/PMC). Periodic paralysis was particularly severe, with several episodes a day lasting for hours. The onset of episodes was unusually early, beginning in the first year of life and persisting into adult life. The paralytic episodes were refractory to treatment....
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