Infantile convulsions and paroxysmal choreoathetosis, familial
Alternate names[edit | edit source]
ICCA; Convulsions, infantile, with paroxysmal choreoathetosis, familial; ICCA syndrome
Definition[edit | edit source]
Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ) and choreoathetotic dyskinetic attacks during childhood or adolescence.
Epidemiology[edit | edit source]
This disorder is rare but the exact prevalence is unknown.
Cause[edit | edit source]
- The genetic loci of ICCA syndrome have been described on chromosomes 16p11.2-q12.1, 16q13-q22.1 and 3q29-29.
- Mutations in the Proline-rich transmembrane protein 2 (PRRT2) gene, located on 16p11.2, have recently been found in families affected by ICCA syndrome. This gene encodes a membrane protein that interacts with the presynaptic protein SNAP-25 but the mechanism leading to the disease remains unknown.
Inheritance[edit | edit source]
ICCA syndrome can present as sporadic or familial; in the latter case, it is transmitted as an autosomal dominant trait that can be variably expressed within the same family.
Signs and symptoms[edit | edit source]
- Benign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures.
- Seizures are afebrile, partial or sometimes generalized, and normally disappear after the first year of life.
- During childhood or adolescence, affected individuals present with paroxysmal kinesigenic dyskinesia with frequent and recurrent episodic choreathetotic or dystonic movements that last less than 1 minute.
- The attacks are triggered by the initiation of voluntary movements or startle.
- The association with other paroxysmal disorders such as migraine, with or without aura, hemiplegic migraine, episodic ataxia and tics has also been described.
- Psychomotor development is normal.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Normal interictal EEG
30%-79% of people have these symptoms
- Athetosis(Involuntary writhing movements in fingers, hands, toes, and feet)
- Choreoathetosis
- Dystonia
- Focal impaired awareness seizure
- Paroxysmal dyskinesia
5%-29% of people have these symptoms
- Complex febrile seizure(Experiential epileptic aura)
Diagnosis[edit | edit source]
- The diagnosis is mainly clinical, based on the appearance of infantile convulsions with benign evolution followed by kinesigenic dyskinesia attacks later on.
- Genetic testing confirms the diagnosis.
Treatment[edit | edit source]
Antiepileptic drugs, mainly phenytoin or carbamazepine, are effective in controlling seizures and dyskinesia during the active phase of the disorder.
Prognosis[edit | edit source]
ICCA has a good outcome. Without treatment, dyskinetic attacks tend to disappear during adulthood.
NIH genetic and rare disease info[edit source]
Infantile convulsions and paroxysmal choreoathetosis, familial is a rare disease.
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