Details of Disease

General Information of Disease (ID: DIS2C0N3)

• Disease Name: Generalized epilepsy with febrile seizures plus, type 7
• Synonyms: febrile seizures, familial, 3B; GEFSP7; Gefs+, type 7; SCN9A generalised epilepsy with febrile seizures plus; SCN9A generalized epilepsy with febrile seizures plus; generalized epilepsy with febrile seizures plus caused by mutation in SCN9A; generalized epilepsy with febrile seizures plus, type 7; generalised epilepsy with febrile seizures plus caused by mutation in SCN9A
• Definition: Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.
• Disease Hierarchy:
  DISJE0UU: Generalized epilepsy with febrile seizures plus
  DIS2C0N3: Generalized epilepsy with febrile seizures plus, type 7
• Disease Identifiers:
  MONDO ID: MONDO_0013470
  MESH ID: C567827
  UMLS CUI: C2751778
  OMIM ID: 613863
  MedGen ID: 416630

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
SCN9A	TT4G2JS	Limited	CausalMutation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN9A	DTQC85B	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN9A	OTGSKLL8	Strong	Autosomal dominant	[2]

References

• [1] Null mutation in SCN9A in which noxious stimuli can be detected in the absence of pain.Neurology. 2014 Oct 21;83(17):1577-80. doi: 10.1212/WNL.0000000000000913. Epub 2014 Sep 24.
• [2] A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet. 2009 Sep;5(9):e1000649. doi: 10.1371/journal.pgen.1000649. Epub 2009 Sep 18.