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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

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Entry Terms:

  • Convulsions, infantile, with paroxysmal choreoathetosis, familial
  • ICCA Infantile convulsions and choreoathetosis

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