Epileptic encephalopathy, early infantile, 2

Common Name(s)

Epileptic encephalopathy, early infantile, 2

EIEE2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome ({312750}), but EIEE2 is considered to be a distinct entity (summary by {4:Fehr et al., 2013}). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 ({308350}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Epileptic encephalopathy, early infantile, 2" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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