The specific and familial association of BIFE and PKC defines a novel clinical entity : the<unk>  syndrome. The first observation was made in four families where children were affected with nonfebrile<unk>  at age 3–12 months. Partial epileptic seizures started with a psychomotor arrest and a deviation of the head and eyes to one side, followed inconstantly by unilateral jerks. In some cases, seizures generalized secondarily. None of the interictal electroencephalograms showed epileptiform abnormalities, and magnetic-resonance imaging were normal. These<unk>  had a favorable outcome. At 5–8 years of age affected children developed abnormal movements. They presented with twisting movements of the hands of a reptilian type when stressed or embarrassed. They also developed jerky movements of the legs after running. Initially, abnormal movements were intermediate in speed between quick and slow, typical of paroxysmal<unk> . Combinations of abnormal movements involving the arms, legs, trunk and occasionally the head were observed. The attacks lasted only a few minutes, occurring with a frequency of 5-30 episodes per day and were not accompanied by unconsciousness. In all patients, abnormal movements disappeared at 25–30 years of age without any treatment. Since the first report similar clinical presentations have been published which confirm the specificity of the ICCA syndrome.
Infantile convulsions and choreoathetosis
Acorea, microphthalmia and cataract syndrome
Benign neonatal sleep myoclonus
Bobble-head doll syndrome
New Brunswick neurological syndrome of unknown cause
Quadrigia
Echolalia
Paroniria