Familial infant myoclonic epilepsy (FIME) is a genetic disease characterized by myoclonic seizures (involuntary jerks/movements) and febrile convulsions (seizures caused by a change in body temperature) that start in early infancy. Additionally, some people with FIME exhibit intellectual disability, delayed speech/motor development, focal seizures, and brain anomalies such as thickening of the cortex (the outer layer of the brain).
FIME is caused by a mutation in the TBC1D24 gene on chromosome 16. Genes are made up of DNA passed from parent to child that create proteins responsible for normal cellular/bodily processes. The TBC1D24 gene is passed down in an autosomal recessive pattern, which means both parents must pass on the mutant TBC1D24 gene for their offspring to have the disease.
FIME can be diagnosed with scans like an EEG or MRI that may be done to monitor brain activity during seizures or to visualize the thickened cortex. Genetic testing may also be available to confirm the mutated TBC1D24 gene.
There is no cure for FIME, but seizures may be controlled through prescription of antiepileptic medication; furthermore, individuals with FIME typically recover from frequent seizures if they are treated properly and early enough.
If you or a family member have been diagnosed with FIME, speak with your doctor to learn more information. Support groups may also be available for further resources.
Description Last Updated: Aug 22, 2018