developmental and epileptic encephalopathy 71

Term ID

DOID:0112207

Synonyms

• DEE71
• early infantile epileptic encephalopathy 71
• glutaminase deficiency with neonatal epileptic encephalopathy

Definition

A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. https://pubmed.ncbi.nlm.nih.gov/30575854/

References

• MIM:618328

Ontology

Human Disease   ( DOID:0112207 )