developmental and epileptic encephalopathy 34

A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 g

A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.

Signs and symptoms

• Cerebral atrophy
• Focal hemiclonic seizure
• Delayed CNS myelination
• Inability to walk
• Status epilepticus
• Developmental regression
• Excessive salivation
• Seizure
• Global developmental delay
• Secondary microcephaly

Also known as: DEE34; early infantile epileptic encephalopathy 34