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Familial infantile myoclonic epilepsy (FIME)

Familial infantile myoclonic epilepsy (FIME)

OMIM number: 605021

Comments closing date: 11/11/2019

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Familial infantile myoclonic epilepsy (FIME) is a genetic condition which is caused by mutations in both copies of the TBC1D24 gene. While it is unclear precisely what this gene does when it is working, it is thought to be important in protecting cells against stress and is active in brain and ear development. Individuals with FIME have no working copy of TBC1D24, which is thought to lead to the symptoms of the condition. This condition is very rare, and has only been reported in a handful of families. Infants with FIME have seizures of different types, including focal, myoclonic and generalised tonic clonic seizures. The seizure frequency and duration of each episode is variable and not possible to predict. Several babies with FIME have died due to their seizure activity, with an average age of 37 months. Mild to moderate intellectual disability is often associated with this condition. Children with this condition tend to be slower to reach their developmental milestones such as fine motor control and walking, as well as delayed in speaking and learning.

Review date: 14 October 2021