developmental and epileptic encephalopathy 42

A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A ge

A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13.

Signs and symptoms

• Global developmental delay
• Epileptic encephalopathy
• Intellectual disability
• Convulsive status epilepticus
• Bilateral tonic-clonic seizure
• Ataxia
• Hypertonia
• EEG abnormality
• Flexion contracture
• Generalized hypotonia

Also known as: DEE42; early infantile epileptic encephalopathy 42