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  • Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

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Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

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    F Brancati, E M Valente, N P Davies, A Sarkozy, M G Sweeney, M LoMonaco, A Pizzuti, M G Hanna, B Dallapiccola

    An Italian kindred is described 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. …

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