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Familial infantile myoclonic epilepsy

rare

A 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.

Causal genes
TBC1D24
Also known as
familial infantile myoclonus epilepsy · FIME · myoclonic epilepsy, familial infantile · myoclonic epilepsy, infantile, familial

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