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Generalized epilepsy with febrile seizures-plus

MedGen UID:
797858
Concept ID:
CN204737
Disease or Syndrome
Synonyms: GEFS+
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Orphanet: ORPHA36387

Definition

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized epilepsy with febrile seizures-plus
Follow this link to review classifications for Generalized epilepsy with febrile seizures-plus in Orphanet.

Recent clinical studies

Etiology

Tan EH, Razak SA, Abdullah JM, Mohamed Yusoff AA
Epilepsy Res 2012 Dec;102(3):210-5. Epub 2012 Sep 1 doi: 10.1016/j.eplepsyres.2012.08.004. [Epub ahead of print] PMID: 22944210
Cui X, Zeng F, Liu Y, Zhang J, Archacki S, Zhan T, Du R, Tang Z, Liu J, Wang QK, Liu M
Neurosci Lett 2011 Sep 26;503(1):27-30. Epub 2011 Aug 6 doi: 10.1016/j.neulet.2011.08.001. [Epub ahead of print] PMID: 21843600
Li N, Zhang J, Guo JF, Yan XX, Xia K, Tang BS
Neurosci Lett 2010 Aug 23;480(3):211-4. Epub 2010 Jun 18 doi: 10.1016/j.neulet.2010.06.040. [Epub ahead of print] PMID: 20600615
Dixon-Salazar TJ, Keeler LC, Trauner DA, Gleeson JG
J Child Neurol 2004 Aug;19(8):597-603. PMID: 15605469
Veggiotti P, Cardinali S, Montalenti E, Gatti A, Lanzi G
Epileptic Disord 2001 Jan-Mar;3(1):29-32. PMID: 11313220

Diagnosis

Scanlon A, Cook SS
J Spec Pediatr Nurs 2010 Apr;15(2):154-9. doi: 10.1111/j.1744-6155.2010.00230.x. PMID: 20367785
Dimova PS, Yordanova I, Bojinova V, Jordanova A, Kremenski I
Pediatr Neurol 2010 Feb;42(2):137-40. doi: 10.1016/j.pediatrneurol.2009.09.007. PMID: 20117752
Livingston JH, Cross JH, Mclellan A, Birch R, Zuberi SM
J Child Neurol 2009 Apr;24(4):503-8. doi: 10.1177/0883073808324537. PMID: 19339291
Gérard F, Pereira S, Robaglia-Schlupp A, Genton P, Szepetowski P
Epilepsia 2002 Jun;43(6):581-6. PMID: 12060016
Lerche H, Weber YG, Baier H, Jurkat-Rott K, Kraus de Camargo O, Ludolph AC, Bode H, Lehmann-Horn F
Neurology 2001 Oct 9;57(7):1191-8. PMID: 11591834

Therapy

Sun L, Gilligan J, Staber C, Schutte RJ, Nguyen V, O'Dowd DK, Reenan R
J Neurosci 2012 Oct 10;32(41):14145-55. doi: 10.1523/JNEUROSCI.2932-12.2012. PMID: 23055484Free PMC Article
Hayashi K, Ueshima S, Ouchida M, Mashimo T, Nishiki T, Sendo T, Serikawa T, Matsui H, Ohmori I
Epilepsia 2011 May;52(5):1010-7. Epub 2011 Apr 11 doi: 10.1111/j.1528-1167.2011.03046.x. [Epub ahead of print] PMID: 21480876
Yordanova I, Todorov T, Dimova P, Hristova D, Tincheva R, Litvinenko I, Yotovska O, Kremensky I, Todorova A
Neurosci Lett 2011 Apr 25;494(2):180-3. Epub 2011 Mar 15 doi: 10.1016/j.neulet.2011.03.008. [Epub ahead of print] PMID: 21396429
Kelley SA, Kossoff EH
Dev Med Child Neurol 2010 Nov;52(11):988-93. Epub 2010 Aug 16 doi: 10.1111/j.1469-8749.2010.03744.x. [Epub ahead of print] PMID: 20722665
Scanlon A, Cook SS
J Spec Pediatr Nurs 2010 Apr;15(2):154-9. doi: 10.1111/j.1744-6155.2010.00230.x. PMID: 20367785

Prognosis

Camfield P, Camfield C
Epileptic Disord 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466
Ben Mahmoud A, Ben Mansour R, Driss F, Baklouti-Gargouri S, Siala O, Mkaouar-Rebai E, Fakhfakh F
Comput Biol Chem 2015 Feb;54:44-8. Epub 2015 Jan 5 doi: 10.1016/j.compbiolchem.2015.01.003. [Epub ahead of print] PMID: 25590135
Scanlon A, Cook SS
J Spec Pediatr Nurs 2010 Apr;15(2):154-9. doi: 10.1111/j.1744-6155.2010.00230.x. PMID: 20367785
Cossette P, Loukas A, Lafrenière RG, Rochefort D, Harvey-Girard E, Ragsdale DS, Dunn RJ, Rouleau GA
Epilepsy Res 2003 Feb;53(1-2):107-17. PMID: 12576172
Meadows LS, Malhotra J, Loukas A, Thyagarajan V, Kazen-Gillespie KA, Koopman MC, Kriegler S, Isom LL, Ragsdale DS
J Neurosci 2002 Dec 15;22(24):10699-709. PMID: 12486163

Clinical prediction guides

Goldberg-Stern H, Aharoni S, Afawi Z, Bennett O, Appenzeller S, Pendziwiat M, Kuhlenbäumer G, Basel-Vanagaite L, Shuper A, Korczyn AD, Helbig I
J Child Neurol 2014 Feb;29(2):221-6. Epub 2013 Nov 20 doi: 10.1177/0883073813509016. [Epub ahead of print] PMID: 24257433
Xu R, Thomas EA, Gazina EV, Richards KL, Quick M, Wallace RH, Harkin LA, Heron SE, Berkovic SF, Scheffer IE, Mulley JC, Petrou S
Neuroscience 2007 Aug 10;148(1):164-74. Epub 2007 Jul 12 doi: 10.1016/j.neuroscience.2007.05.038. [Epub ahead of print] PMID: 17629415
Gérard F, Pereira S, Robaglia-Schlupp A, Genton P, Szepetowski P
Epilepsia 2002 Jun;43(6):581-6. PMID: 12060016
Veggiotti P, Cardinali S, Montalenti E, Gatti A, Lanzi G
Epileptic Disord 2001 Jan-Mar;3(1):29-32. PMID: 11313220
Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prud'homme JF, Baulac M, Brice A, LeGuern E
Am J Hum Genet 1999 Oct;65(4):1078-85. doi: 10.1086/302593. PMID: 10486327Free PMC Article

Recent systematic reviews

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