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.
References in periodicals archive ?
Maintaining a balance between security and economic demands for spectrum depends on a sustainable EME, and a sustainable EME requires the DON to balance national defense and commercial demands with fair and equitable access.
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The EME unit, which houses ruggedized and commercial electronic equipment for the ship's external communications, was shipped from Raytheon's facility in Largo, Fla.
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The proposed new issuance by EME and MWG is conditional upon the successful conclusion of tender and consent solicitations for debt of EME, MWG, and Mission Energy Holdings Company (MEHC) announced by their ultimate parent, Edison International on April 17.