Ontology highlight
ABSTRACT:
SUBMITTER: Han JY
PROVIDER: S-EPMC3254893 | biostudies-literature | 2011 Nov
REPOSITORIES: biostudies-literature
Han Ji-Yeon JY Kim June-Bum JB
Korean journal of pediatrics 20111130 11
Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis revealed a heterozygous c.2111C>T substitution in the SCN4A gene leading to a Thr704Met mutation in the prote ...[more]