epileptic encephalopathy—early infantile—8

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epileptic encephalopathy—early infantile—82016-11-25T19:48:44+00:00

epileptic encephalopathy—early infantile—8 

NEUROLOGY

A genetically heterogeneous disorder (OMIM:300607) characterised by hyperekplexia, early infantile epileptic encephalopathy, exaggerated startle response, seizures provoked by tactile stimulation or extreme emotion, impaired psychomotor development, severe mental retardation and death in early childhood

Molecular pathology Defects of ARHGEF9, which encodes a Rho-like GTPase, cause epileptic encephalopathy—early infantile—8.

Synonyms Hyperekplexia with epilepsy, startle disease with epilepsy

References http://www.uniprot.org/uniprot/O43307

http://www.omim.org/entry/300607

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