developmental and epileptic encephalopathy 63

A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozyg

A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Inability to walk
• Generalized myoclonic seizure
• Seizure
• Hypotonia
• Thin upper lip vermilion
• Intellectual disability
• Absent speech
• Delayed ability to walk
• Global developmental delay

Also known as: DEE63; early infantile epileptic encephalopathy 63