Conditions / Genetic
developmental and epileptic encephalopathy 112
info · Genetic
A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23.
Signs and symptoms
- Bilateral tonic-clonic seizure
- Clonic seizure
- Macroglossia
- Autistic behavior
- Focal motor seizure
- Attention deficit hyperactivity disorder
- Focal-onset seizure
- Delayed speech and language development
- Global developmental delay
- Epileptic encephalopathy