Developmental and Epileptic Encephalopathy 15 (DEE15)

Alias:

Epileptic Encephalopathy, Early Infantile, 15

Dee15

Developmental and Epileptic Encephalopathy, 15

Eiee15

Early Infantile Epileptic Encephalopathy with Suppression Bursts

Encephalopathy, Epileptic, Early Infantile, Type 15

Early Infantile Epileptic Encephalopathy 15

X-Linked Infantile Spasm Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Developmental and Epileptic Encephalopathy 15, also known as epileptic encephalopathy, early infantile, 15, is related to salt and pepper syndrome and thiamine-responsive megaloblastic anemia syndrome. An important gene associated with Developmental and Epileptic Encephalopathy 15 is ST3GAL3 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include eye, and related phenotypes are hypotonia and irritability

Related ID：

MALACARDS：DVL043

OMIM：615006

MESH：D013036