developmental and epileptic encephalopathy 52

A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gen

A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Generalized myoclonic seizure
• Generalized hypotonia
• Focal hemiclonic seizure
• Febrile seizure (within the age range of 3 months to 6 years)
• Seizure
• Global developmental delay
• Limb ataxia
• Atypical absence seizure
• Developmental stagnation

Also known as: DEE52; early infantile epileptic encephalopathy 52