developmental and epileptic encephalopathy 25

A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or

A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.

Signs and symptoms

• Axial hypotonia
• Absent speech
• Global developmental delay
• Epileptic encephalopathy
• Status epilepticus
• Limb hypertonia
• Microcephaly
• Delayed eruption of teeth
• Ataxia
• Delayed myelination

Also known as: DEE25; SLC13A5 citrate transporter disorder; developmental and epileptic encephalopathy 25, with amelogenesis imperfecta; early infantile epileptic encephalopathy 25