Ontology highlight
ABSTRACT:
SUBMITTER: Jaudon F
PROVIDER: S-EPMC7555146 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Jaudon Fanny F Baldassari Simona S Musante Ilaria I Thalhammer Agnes A Zara Federico F Cingolani Lorenzo A LA
Biomedicines 20200905 9
Episodic ataxia type 2 (EA2) is an autosomal dominant neurological disorder characterized by paroxysmal attacks of ataxia, vertigo, and nausea that usually last hours to days. It is caused by loss-of-function mutations in <i>CACNA1A</i>, the gene encoding the pore-forming α<sub>1</sub> subunit of P/Q-type voltage-gated Ca<sup>2+</sup> channels. Although pharmacological treatments, such as acetazolamide and 4-aminopyridine, exist for EA2, they do not reduce or control the symptoms in all patients ...[more]