Developmental and Epileptic Encephalopathy 66 (DEE66)

Alias:

Dee66

Developmental and Epileptic Encephalopathy, 66

Epileptic Encephalopathy, Early Infantile, 66

Eiee66

Encephalopathy, Epileptic, Early Infantile, Type 66

Early Infantile Epileptic Encephalopathy 66

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Developmental and Epileptic Encephalopathy 66, also known as dee66, is related to developmental and epileptic encephalopathy and hypotonia. An important gene associated with Developmental and Epileptic Encephalopathy 66 is PACS2 (Phosphofurin Acidic Cluster Sorting Protein 2), and among its related pathways/superpathways is Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include brain, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：DVL090

OMIM：618067

MESH：D013036