developmental and epileptic encephalopathy 75

A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hy

A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3.

Signs and symptoms

• Hypsarrhythmia
• Seizure
• Feeding difficulties in infancy
• Absent speech
• Global developmental delay
• Secondary microcephaly
• Prolonged neonatal jaundice
• Sloping forehead
• Upslanted palpebral fissure
• Anteverted nares

Also known as: DEE75; early infantile epileptic encephalopathy 75