Details of Disease

General Information of Disease (ID: DIS58QJS)

• Disease Name: Generalized epilepsy with febrile seizures plus, type 2
• Synonyms: febrile seizures, familial, 3A; Gefs+, type 2; GEFSP2; febrile seizures, familial caused by mutation in SCN1A; SCN1A febrile seizures, familial; generalized epilepsy with febrile seizures plus, type 2
• Definition: Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.
• Disease Hierarchy:
  DISJE0UU: Generalized epilepsy with febrile seizures plus
  DISZCC8H: Acute repetitive seizure
  DIS58QJS: Generalized epilepsy with febrile seizures plus, type 2
• Disease Identifiers:
  MONDO ID: MONDO_0011461
  MESH ID: C565810
  UMLS CUI: C1858673
  OMIM ID: 604403
  MedGen ID: 388117

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN1A	TTANOZH	Limited	CausalMutation	[1]
ADRA1D	TT34BHT	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN1A	DTN0M1I	Definitive	Autosomal dominant	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN1A	OTJ9ZTYI	Definitive	Autosomal dominant	[3]

References

• [1] Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.PLoS One. 2012;7(7):e41802. doi: 10.1371/journal.pone.0041802. Epub 2012 Jul 25.
• [2] Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.J Physiol. 2005 Dec 1;569(Pt 2):433-45. doi: 10.1113/jphysiol.2005.094326. Epub 2005 Oct 6.
• [3] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.