developmental and epileptic encephalopathy 30

A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q

A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22.

Signs and symptoms

• Absent speech
• Seizure
• Global developmental delay
• Motor stereotypy
• Encephalopathy
• Bilateral tonic-clonic seizure
• Hypsarrhythmia
• Feeding difficulties
• Respiratory distress
• Epileptic encephalopathy

Also known as: DEE30; early infantile epileptic encephalopathy 30