developmental and epileptic encephalopathy 118

A developmental and epileptic encephalopathy that is characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematol

A developmental and epileptic encephalopathy that is characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Delayed CNS myelination
• Recurrent lower respiratory tract infections
• Focal impaired awareness seizure
• Flexion contracture
• Gait ataxia
• Hypotonia
• Ataxia
• Myoclonic seizure
• Generalized hypotonia