developmental and epileptic encephalopathy 6B

A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q2

A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Inability to walk
• Profound intellectual disability
• Hypotonia
• Multifocal epileptiform discharges
• Global developmental delay
• Gastrostomy tube feeding in infancy
• Absent speech
• Myoclonic seizure
• Focal-onset seizure

Also known as: DEE6B