Familial focal epilepsy (FFE) is a rare genetic epilepsy disorder characterized by focal/partial seizures that occur in only one region of the brain. The most common regions are the temporal lobe (responsible for speech comprehension/hearing) or the frontal lobe (responsible for behavior/personality/voluntary movement).
The most common symptom of FFE is localized siezures which do not cause a loss of consciousness. Some people with FFE may also experience secondarily generalized seizures, or tonic-clonic seizures, that begin in one brain region and spread to others. These seizures may cause a loss of consciousness, muscle stiffening, and rhythmic jerking. Additionally, a small proportion of those with FFE may also have focal cortical dysplasia, which is the abnormal development of the cortical region of the brain. Typically, many individuals in a family have FFE, and their unique affected brain region usually stays the same over time.
FFE is caused by a mutation in the DEPDC5 gene. Genes are units of DNA passed from parent to child that create proteins responsible for normal bodily/cellular processes. The DEPDC5 gene is inherited in an autosomal dominant pattern, which means only one parent has to have the mutated gene for their offspring to display symptoms of FFE.
Most people with FFE do not have intellectual disabilities, though some may have schizophrenic symptoms or behavioral problems. FFE may be diagnosed through a family health history evaluation and genetic testing. Those with symptoms of FFE may be given a sleep EEG to test for abnormal brain patterns related to focal seizures. Genetic counseling may also be an available for families with FFE.
The main form of treatment for FFE is prescription of anti-epileptic drugs (AEDs) to properly manage seizures.
If you or a family member have been diagnosed with FFE speak with your doctor to learn more information.
Description Last Updated: Aug 22, 2018