Developmental and Epileptic Encephalopathy 8 (DEE8)

Alias:

Epileptic Encephalopathy, Early Infantile, 8

Eiee8

Dee8

Developmental and Epileptic Encephalopathy, 8

Hyperekplexia and Epilepsy

Encephalopathy, Epileptic, Early Infantile, Type 8

Early Infantile Epileptic Encephalopathy 8

Hyperekplexia-Epilepsy Syndrome

Startle Disease with Epilepsy

Hyperekplexia with Epilepsy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Developmental and Epileptic Encephalopathy 8, also known as epileptic encephalopathy, early infantile, 8, is related to aicardi syndrome and developmental and epileptic encephalopathy 1, and has symptoms including reflex, abnormal and hyperexplexia. An important gene associated with Developmental and Epileptic Encephalopathy 8 is ARHGEF9 (Cdc42 Guanine Nucleotide Exchange Factor 9), and among its related pathways/superpathways is Ectoderm differentiation. Affiliated tissues include brain, and related phenotypes are developmental regression and hypertonia

Related ID：

MALACARDS：DVL028

OMIM：300607

MESH：D013036