developmental and epileptic encephalopathy 39

A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene

A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.

Signs and symptoms

• Seizure
• Severe muscular hypotonia
• Cerebral hypomyelination
• Reduced brain N-acetyl aspartate level by MRS
• Reduced eye contact
• Single transverse palmar crease
• Delayed ability to roll over
• Absent speech
• Delayed ability to walk
• Global developmental delay

Also known as: AGC1 deficiency; early infantile epileptic encephalopathy 39; epileptic encephalopathy with global cerebral demyelination