developmental and epileptic encephalopathy 110

A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygou

A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21.

Signs and symptoms

• Narrow forehead
• Poor head control
• Generalized non-motor (absence) seizure
• Profound intellectual disability
• Hypotonia
• Cerebral visual impairment
• Pain insensitivity
• Axial hypotonia
• Absent speech
• Hypoplasia of the corpus callosum

Also known as: DEE110; early infantile epileptic encephalopathy 110