Details of Disease

General Information of Disease (ID: DISA9SHW)

• Disease Name: Febrile seizures, familial, 8
• Synonyms: ECA2; Gefs+, type 3; epilepsy, childhood absence, susceptibility to, type 2; susceptibility to childhood absence epilepsy 2; GEFSP3; epilepsy, childhood absence, susceptibility to, 2; childhood absence epilepsy caused by mutation in GABRG2; GABRG2 childhood absence epilepsy; GABRG2 generalised epilepsy with febrile seizures plus; generalized epilepsy with febrile seizures plus, type 3; GABRG2 generalized epilepsy with febrile seizures plus; generalised epilepsy with febrile seizures plus, type 3; generalized epilepsy with febrile seizures plus caused by mutation in GABRG2; generalised epilepsy with febrile seizures plus caused by mutation in GABRG2
• Definition: A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.
• Disease Hierarchy:
  DISJE0UU: Generalized epilepsy with febrile seizures plus
  DISZCC8H: Acute repetitive seizure
  DIS4709R: Absence seizure
  DISA9SHW: Febrile seizures, familial, 8
• Disease Identifiers:
  MONDO ID: MONDO_0011891
  UMLS CUI: C1969810
  OMIM ID: 607681
  MedGen ID: 370755

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GABRG2	TT06RH5	Strong	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GABRG2	OTGNDWUO	Strong	Autosomal dominant	[1]

References

• [1] Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 2001 May;28(1):49-52. doi: 10.1038/ng0501-49.