Childhood absence epilepsy (CAE) is a hereditary disorder that involves the onset of frequent absence seizures – temporary losses of focus/awareness, sometimes involving staring. Some affected children also experience repetitive movements, along with attention, concentration, and memory problems.
Seizures usually begin between the ages of 2 and 12, though most commonly, they appears between ages 5 and 8. Both boys and girls are equally affected. Each absence seizure typically lasts between 10 and 20 seconds and ends abruptly. They often occur during exercise, and children may have between 1 and 100 of these seizures a day. CAE is a generalized idiopathic epilepsy, meaning the onset is sudden and without any prior medical warning.
Susceptibility to childhood absence epilepsy 6 (CAE6) is caused by a mutation (change) in the CACNA1H gene. Genes are units of DNA that code for proteins responsible for normal body/cellular processes, and are passed from parent to child. The CACNA1H gene is passed on in an autosomal dominant pattern, meaning only one parent has to have the mutated CACNA1H gene for their child to develop CAE6.
CAE diagnosis usually involves an examination of symptoms and family health history. An EEG may be done to examine brain electrical activity and to further confirm the diagnosis. Genetic testing may be an option to identify the mutant CACNA1H gene.
There is no cure for CAE – most children with CAE no longer have seizures by the time they reach adolescence. Treatment for absence seizures may include drugs like ethosuximide and valproate, both of which are normal seizure medications. Some children may be prescribed a ketogenic diet (high fat) if they do not respond to treatment by medication. A small percentage of children with this condition will develop other types of seizures in adolescence. If you or a family member have been diagnosed with CAE, speak with your doctor to learn more information.
Description Last Updated: Aug 05, 2018