Disease

Early Infantile Epileptic Encephalopathy 1

About the Disease
Developmental and Epileptic Encephalopathy 1, also known as epileptic encephalopathy, early infantile, 1, is related to developmental and epileptic encephalopathy 2 and non-syndromic x-linked intellectual disability arx-related, and has symptoms including dyspnea, muscle spasticity and myoclonic seizures. An important gene associated with Developmental and Epileptic Encephalopathy 1 is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Neuroscience and Interaction between L1 and Ankyrins. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and spasticity

Common Targets
ARX | GABRA1 | SYNGAP1 | FRRS1L | STXBP1 | CYFIP2 | SCN2A

疾病靶点研报
Early Infantile Epileptic Encephalopathy 1

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