The symptoms described above.
Childhood Absence Epilepsy - CACNA1H, SLC2A1
Clinical Features
Childhood Absence Epilepsy (pyknolepsy) accounts for 6-12% of all epilepsies and normally occurs between the ages of 3 and 12. A genetic predisposition to epileptic seizures is common. This form of epilepsy is characterized by heavily massed absence seizures, occurring up to 100 or more times/day and negatively affecting schoolwork. During absences, EEG reveals the classic 3-second spike-wave pattern in all regions of the brain. There is no evidence of structural changes in the brain. Antiepileptic medications such as ethosuximide, valproic acid, and lamotrigine-either alone or in combination-are successful in treating 90% of cases or often result in complete recovery. Spontaneous recovery from this form of epilepsy may also occur.
Genetic Information
Childhood Absence Epilepsy follows an autosomal dominant pattern of inheritance and is caused by mutations in the alpha-1H subunit of the voltage-dependent calcium channel gene (CACNA1H) located on chromosome 16 (16p13.3).
Prevalence
Rare
Diagnostic
Indication
Method
Mutation analysis of all coding regions, bordering intronic regions, and 5´ and 3´ untranslated regions of the CACNA1H gene using DNA sequencing.
Sample Requirement
2 - 4 ml of EDTA blood
Duration
4 - 6 weeks