Developmental and Epileptic Encephalopathy 9 (DEE9)

Alias:

Efmr

Epileptic Encephalopathy, Early Infantile, 9

Juberg-Hellman Syndrome

Eiee9

Dee9

Female Restricted Epilepsy with Intellectual Disability

Epilepsy, Female-Restricted, with Mental Retardation

Developmental and Epileptic Encephalopathy, 9

Early Infantile Female-Limited Epilecptic Encephalopathy

Female Restricted Epilepsy with Mental Retardation

Encephalopathy, Epileptic, Early Infantile, Type 9

Early Infantile Epileptic Encephalopathy 9

Juberg Hellman Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Developmental and Epileptic Encephalopathy 9, also known as efmr, is related to developmental and epileptic encephalopathy and early infantile epileptic encephalopathy, and has symptoms including convulsive seizures, absence seizures and myoclonic seizures. An important gene associated with Developmental and Epileptic Encephalopathy 9 is PCDH19 (Protocadherin 19), and among its related pathways/superpathways are Neuroscience and Rett syndrome causing genes. Affiliated tissues include brain, and related phenotypes are febrile seizure (within the age range of 3 months to 6 years) and intellectual disability

Related ID：

MALACARDS：DVL027

OMIM：300088

MESH：D008607