Developmental and Epileptic Encephalopathy 39 with Leukodystrophy (DEE39)

Alias:

Hypomyelination, Global Cerebral

Agc1 Deficiency

Epileptic Encephalopathy, Early Infantile, 39

Developmental and Epileptic Encephalopathy 39

Epileptic Encephalopathy with Global Cerebral Demyelination

Developmental and Epileptic Encephalopathy, 39

Aspartate-Glutamate Carrier 1 Deficiency

Eiee39

Dee39

Hereditary Central Nervous System Demyelinating Diseases

Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

Early Infantile Epileptic Encephalopathy 39

Global Cerebral Hypomyelination

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Developmental and Epileptic Encephalopathy 39 with Leukodystrophy, also known as hypomyelination, global cerebral, is related to early infantile epileptic encephalopathy and hypotonia, and has symptoms including muscle spasticity and seizures. An important gene associated with Developmental and Epileptic Encephalopathy 39 with Leukodystrophy is SLC25A12 (Solute Carrier Family 25 Member 12), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include brain and eye, and related phenotypes are seizure and spasticity

Related ID：

MALACARDS：DVL146

OMIM：612949

MESH：C567847