developmental and epileptic encephalopathy 43

A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosom

A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Global developmental delay
• Infantile spasms
• Atonic seizure
• Ataxia
• Generalized hypotonia
• Myoclonic seizure
• Dyskinesia
• Impulsivity
• Atypical absence seizure

Also known as: DEE43; early infantile epileptic encephalopathy 43