developmental and epileptic encephalopathy 101

A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34.

Signs and symptoms

• Axial hypotonia
• Poor head control
• Bradycardia
• Seizure
• Feeding difficulties
• Limb joint contracture
• Gastroesophageal reflux
• Profound global developmental delay
• Severe global developmental delay
• Third degree atrioventricular block

Also known as: DEE101; early infantile epileptic encephalopathy 101