developmental and epileptic encephalopathy 35

A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mu

A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.

Signs and symptoms

• Seizure
• Global developmental delay
• Feeding difficulties
• Microcephaly
• Encephalopathy
• Cerebral atrophy
• Status epilepticus
• Delayed CNS myelination
• Severe muscular hypotonia
• Brain atrophy

Also known as: DEE35; ITPA-related encephalopathy; early infantile epileptic encephalopathy 35