developmental and epileptic encephalopathy 26

A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 ge

A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Atonic seizure
• Global developmental delay
• Hypotonia
• Infantile spasms
• Epileptic encephalopathy
• Hypsarrhythmia
• Absent speech
• Focal impaired awareness seizure
• Atypical absence seizure

Also known as: DEE26; early infantile epileptic encephalopathy 26