Infantile convulsions and choreoathetosis

Infantile convulsions and choreoathetosis, abbreviated ICCA syndrome, is a neurological genetic disorder with an autosomal dominant mode of inheritance. It combines benign familial infantile epilepsy, with seizures beginning between 3 and 12 months of age, with paroxysmal kinesigenic choreoathetosis that appears later in life. Seizures are partial, often beginning with a stop in activity and deviation of the head and eyes, and usually have a favorable outcome. At 5 to 8 years the children develop twisting hand movements and jerky leg movements brought on by stress or running, lasting a few minutes and occurring many times a day without loss of consciousness. In the families described the abnormal movements disappeared at 25 to 30 years of age without treatment. The syndrome was first reported in 1997 in four families from north-western France and was the first genetic evidence of shared mechanisms between benign infantile seizures and paroxysmal dyskinesia. It has been mapped to the pericentromeric region of chromosome 16, and more than 30 families have been described worldwide.