Convulsions, familial infantile, with paroxysmal choreoathetosis - CISMeF
Convulsions, familial infantile, with paroxysmal choreoathetosisOMIM Phenotype
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).;