developmental and epileptic encephalopathy 92

A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q3

A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.

Signs and symptoms

• Seizure
• Epileptic encephalopathy
• Global developmental delay
• Secondary microcephaly
• Lethargy
• Absent speech
• EEG abnormality
• Gait disturbance
• Dystonia
• Feeding difficulties