Details of Disease

General Information of Disease (ID: DISJE0UU)

• Disease Name: Generalized epilepsy with febrile seizures plus
• Synonyms: generalized epilepsy with febrile seizures-plus; generalised epilepsy with febrile seizures-plus; genetic epilepsy with febrile seizures plus; genetic epilepsy with febrile seizures-plus; GEFS+; generalized epilepsy with febrile seizures plus; epilepsy, generalized, with febrile seizures plus
• Definition: A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).
• Disease Hierarchy:
  DISD715V: Hereditary neurological disease
  DISBB28L: Epilepsy
  DISJE0UU: Generalized epilepsy with febrile seizures plus
• Disease Identifiers:
  MONDO ID: MONDO_0018214
  MESH ID: C565808
  UMLS CUI: C3502809
  MedGen ID: 503203
  Orphanet ID: 36387
  SNOMED CT ID: 699688008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GABRG2	TT06RH5	Supportive	Autosomal dominant	[1]
ADRA1D	TT34BHT	Strong	Genetic Variation	[2]
GABRD	TTGXH6N	Strong	Genetic Variation	[3]
GABRG2	TT06RH5	Strong	Genetic Variation	[4]
HCN1	TTNB6UQ	Strong	GermlineCausalMutation	[5]
KCNA1	TTS3DIK	Strong	Genetic Variation	[6]
KCNQ3	TTIVDM3	Strong	Genetic Variation	[7]
SCN2A	TTLJTUF	Strong	Genetic Variation	[8]
HCN1	TTNB6UQ	Definitive	Autosomal dominant	[9]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN1A	DTN0M1I	Definitive	Autosomal dominant	[9]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADGRV1	OTLVXHHP	Limited	Genetic Variation	[10]
GABRG2	OTGNDWUO	Supportive	Autosomal dominant	[1]
HCN1	OTVOWKQ7	Definitive	Autosomal dominant	[9]
SCN1A	OTJ9ZTYI	Definitive	Autosomal dominant	[9]
SCN1B	OTGD78J3	Definitive	Autosomal dominant	[9]
STX1B	OTSW59X0	Definitive	Autosomal dominant	[9]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
• [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] Mutations in GABAA receptor subunits associated with genetic epilepsies.J Physiol. 2010 Jun 1;588(Pt 11):1861-9. doi: 10.1113/jphysiol.2010.186999. Epub 2010 Mar 22.
• [4] A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.Neurobiol Dis. 2014 Apr;64:131-141. doi: 10.1016/j.nbd.2013.12.013. Epub 2014 Jan 7.
• [5] HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.
• [6] Ion channels and epilepsy.Am J Med Genet. 2001 Summer;106(2):146-59. doi: 10.1002/ajmg.1582.
• [7] Impact of our understanding of the genetic aetiology of epilepsy.J Neurol. 2000 May;247(5):327-34. doi: 10.1007/s004150050598.
• [8] Confirming an expanded spectrum of SCN2A mutations: a case series.Epileptic Disord. 2014 Mar;16(1):13-8. doi: 10.1684/epd.2014.0641.
• [9] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [10] A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.Ann Neurol. 2002 Nov;52(5):654-7. doi: 10.1002/ana.10347.