developmental and epileptic encephalopathy 76

A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound

A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1.

Signs and symptoms

• Axial hypotonia
• Absent speech
• Seizure
• Intellectual disability
• Inability to walk
• Feeding difficulties in infancy
• Multifocal epileptiform discharges
• Hypoplasia of the corpus callosum
• Microcephaly
• Lower limb spasticity

Also known as: DECAM; DEE76; developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination; early infantile epileptic encephalopathy 76