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 ?
Expanding support for DASH and new technologies like the Common Media Application Format (CMAF) are helping, but EME is still more complicated and expensive for producers than the plugin model.
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EME also faced expensive pollution control projects at the coal plants to comply with both state and federal clean air rules.
In such an event, EME said, it likely would file bankruptcy.
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Edison Chief Executive Officer John Bryson attributed the earnings drop to a $150 million, 45-cent-per-share, asset impairment charge related to eight Illinois peaking plants operated by EME.
Edison International (EIX) has managed EME on a stand-alone basis, and Fitch does not expect any direct financial exposure to result from the anticipated bankruptcy for the ultimate parent or its core electric operating subsidiary, Southern California Edison Co.