epileptic encephalopathy, early infantile, type 3

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epileptic encephalopathy, early infantile, type 3

A severe autosomal recessive form (OMIM:609304) of neonatal epilepsy with a suppression-burst pattern, characterised by a massive, erratic and fragmentary myoclonus, partial motor seizures, late tonic spasms and a very early onset. The prognosis is poor; children with EIEE3 either die 1 to 2 years after birth or survive in a persistent vegetative state.

Molecular pathology
Caused by defects of SLC25A22, which encodes a mitochondrial-membrane carrier protein that co-transports glutamate with H+ across the inner mitochondrial membrane.

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