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