early infantile epileptic encephalopathy, early infantile, type 4

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early infantile epileptic encephalopathy, early infantile, type 4

A disorder (OMIM:612164) characterised by neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination.

Molecular pathology
Caused by defects of STXBP1, which encodes a syntaxin-binding protein thought to play a role in regulating synaptic vesicle docking and fusion and in the release of neurotransmitters.