Non-Specific Early-Onset Epileptic Encephalopathy

Alias:
Undetermined Early-Onset Epileptic Encephalopathy
Non-Specific Eoee
Undetermined Eoee
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Non-Specific Early-Onset Epileptic Encephalopathy, also known as undetermined early-onset epileptic encephalopathy, is related to familial or sporadic hemiplegic migraine and cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2. An important gene associated with Non-Specific Early-Onset Epileptic Encephalopathy is IQSEC2 (IQ Motif And Sec7 Domain ArfGEF 2), and among its related pathways/superpathways are Presenilin-Mediated Signaling and Fc-GammaR Pathway. Affiliated tissues include brain and eye, and related phenotypes are encephalopathy and intellectual disability
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
Newborn
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52
454
3

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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