developmental and epileptic encephalopathy 12

A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_mater

A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.

Signs and symptoms

• Axial hypotonia
• Epileptic spasm
• Bilateral tonic-clonic seizure
• Hypsarrhythmia
• Developmental regression
• Tonic seizure
• Epileptic encephalopathy
• Focal-onset seizure
• Spasticity
• Hyperreflexia

Also known as: DEE12; early infantile epileptic encephalopathy 12