Infantile convulsions and paroxysmal choreoathetosis, familial [Supplementary Concept]
A hereditary autosomal dominant disorder characterized by afebrile seizures occurring between 3 and 12 months of age. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. Mutations in the PRRT2 gene have been identified. OMIM: 602066
Date introduced: August 25, 2010
MeSH Unique ID: C535522
Heading Mapped to:
Entry Terms:
- Convulsions, infantile, with paroxysmal choreoathetosis, familial
- ICCA Infantile convulsions and choreoathetosis