Developmental and Epileptic Encephalopathy 2 (DEE2)

Alias:

Epileptic Encephalopathy, Early Infantile, 2

Eiee2

Dee2

Developmental and Epileptic Encephalopathy, 2

Issx2

Encephalopathy, Epileptic, Early Infantile, Type 2

Rett Syndrome Variant with Infantile Spasms

Early Infantile Epileptic Encephalopathy 2

Rett Syndrome Early-Onset Seizure Variant

Atypical Rett Syndrome Hanefeld Variant

Infantile Spasm Syndrome, X-Linked 2

Atypical Rett Syndrome Cdkl5-Related

X-Linked Infantile Spasm Syndrome 2

Infantile Spasm Syndrome X-Linked 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Developmental and Epileptic Encephalopathy 2, also known as epileptic encephalopathy, early infantile, 2, is related to rett syndrome and microcephaly, and has symptoms including constipation, myoclonus and difficulty sleeping. An important gene associated with Developmental and Epileptic Encephalopathy 2 is CDKL5 (Cyclin Dependent Kinase Like 5), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and G-Beta Gamma Signaling. Affiliated tissues include eye and brain, and related phenotypes are global developmental delay and eeg with generalized slow activity

Related ID：

MALACARDS：DVL029

OMIM：300672

MESH：D013036