Ontology highlight
ABSTRACT:
SUBMITTER: Choi KD
PROVIDER: S-EPMC5035943 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Choi Kwang-Dong KD Choi Jae-Hwan JH
Journal of movement disorders 20160921 3
Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have an autosomal dominant inheritance pattern. To date, 8 subtypes have been defined according to clinical and genetic characteristics, and five genes are known to be linked to EAs. Both EA1 and EA2, which are caused by mutations in KCNA1 and CACNA1A, account for the majority of EA, but many patients with no identifi ...[more]