Conditions / Genetic
developmental and epileptic encephalopathy 7
info · Genetic
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.
Signs and symptoms
- Dystonia
- Seizure
- Global developmental delay
- Hypotonia
- EEG with burst suppression
- Epileptic encephalopathy
- Spastic tetraparesis
- Intellectual disability
- Hypoplasia of the corpus callosum
Also known as: KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy; early infantile epileptic encephalopathy 7