Developmental and epileptic encephalopathy, 39

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.

Also known as: AGC1 deficiency, DEE39, EIEE39, SLC25A12 early infantile epileptic encephalopathy, early infantile epileptic encephalopathy caused by mutation in SLC25A12, epileptic encephalopathy with global cerebral demyelination, epileptic encephalopathy, early infantile, 39, mitochondrial aspartate-glutamate carrier 1 deficiency

78 clinical trials for this condition and its sub-types.