/developmental and epileptic encephalopathy, 39

developmental and epileptic encephalopathy, 39

Rare Disease

MONDO:0013056

Also Known As

AGC1 deficiencyDEE39EIEE39SLC25A12 early infantile epileptic encephalopathydevelopmental and epileptic encephalopathy 39early infantile epileptic encephalopathy caused by mutation in SLC25A12epileptic encephalopathy with global cerebral demyelinationepileptic encephalopathy, early infantile, 39mitochondrial aspartate-glutamate carrier 1 deficiencyaspartate-glutamate carrier 1 deficiencyhypomyelination, global cerebral

Definition

A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.