developmental and epileptic encephalopathy 16

A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC

A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.

Signs and symptoms

• Cerebral atrophy
• Developmental regression
• Feeding difficulties
• Global developmental delay
• Hypotonia
• Clonic seizure
• Epileptic encephalopathy
• Visual loss
• Status epilepticus
• Dystonia

Also known as: DEE16; early infantile epileptic encephalopathy 16