developmental and epileptic encephalopathy 62

A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozy

A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.

Signs and symptoms

• Seizure
• Global developmental delay
• Absent speech
• Epileptic encephalopathy
• Inability to walk
• Hypoplasia of the corpus callosum
• Generalized hypotonia
• Abnormal cerebral white matter morphology
• Polymicrogyria
• Dysphagia

Also known as: DEE62; early infantile epileptic encephalopathy 62