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Infantile convulsions and paroxysmal choreoathetosis, familial MeSH Supplementary Concept Data 2024


MeSH Supplementary
Infantile convulsions and paroxysmal choreoathetosis, familial
Unique ID
C535522
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535522
Entry Term(s)
Convulsions, infantile, with paroxysmal choreoathetosis, familial
ICCA Infantile convulsions and choreoathetosis
Heading Mapped to
*Seizures
*Dyskinesias
*Epilepsy, Benign Neonatal
Frequency
17
Note
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 of Entry
2010/08/25
Revision Date
2019/06/24
Infantile convulsions and paroxysmal choreoathetosis, familial Preferred
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