Conditions / Nervous system
generalized epilepsy with febrile seizures plus 10
info ยท Nervous system
A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12.
Signs and symptoms
- Seizure
- Intellectual disability
- Febrile seizure (within the age range of 3 months to 6 years)
- Generalized non-motor (absence) seizure
- Autistic behavior
- Microcephaly
- Delayed speech and language development
- Global developmental delay
Also known as: GEFS+10; GEFSP10; generalised epilepsy with febrile seizures plus 10; generalised epilepsy with febrile seizures plus type 10; generalized epilepsy with febrile seizures plus type 10