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Familial infantile myoclonic epilepsy
rareA rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.
- Identifiers
- MONDO:0011506 OMIM:605021Orphanet:352582
- Causal genes
- TBC1D24
- Also known as
- familial infantile myoclonus epilepsy · FIME · myoclonic epilepsy, familial infantile · myoclonic epilepsy, infantile, familial
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