" /> Convulsions, familial infantile, with paroxysmal choreoathetosis - CISMeF





Preferred Label : Convulsions, familial infantile, with paroxysmal choreoathetosis;

Symbol : ICCA;

CISMeF acronym : ICCA; PKD/IC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Paroxysmal kinesigenic dyskinesia with infantile convulsions; Infantile convulsions and paroxysmal choreoathetosis, familial; PKD/IC; Icca syndrome;

Description : Benign familial infantile convulsions (BFIC; see 601764) is an 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. The ICCA syndrome shares overlapping clinical features with benign familial infantile seizures-2 (BFIS2; 605751) and episodic kinesigenic dyskinesia-1 (EKD1; 128200), which are allelic disorders. See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (608105), which maps to 16p.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the proline-rich transmembrane protein 2 gene (PRRT2, 614386.0001).;

Prefixed ID : #602066;

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29/07/2025


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