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Generalized epilepsy with febrile seizures plus

MedGen UID:
503203
Concept ID:
C3502809
Disease or Syndrome
Synonym: Generalized Epilepsy with Febrile Seizures Plus
SNOMED CT: Generalized epilepsy with febrile seizures plus (699688008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0018214
OMIM® Phenotypic series: PS604233
Orphanet: ORPHA36387

Disease characteristics

Excerpted from the GeneReview: SCN1A Seizure Disorders
SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family. [from GeneReviews]
Authors:
Ian O Miller  |  Marcio A Sotero de Menezes   view full author information

Additional description

From MedlinePlus Genetics
Some people with GEFS+ have seizure disorders of intermediate severity that may not fit into the classical diagnosis of simple febrile seizures, FS+, or Dravet syndrome.

Family members with GEFS+ may have different combinations of febrile seizures and epilepsy. For example, one affected family member may have only febrile seizures, while another also has myoclonic epilepsy. While GEFS+ is usually diagnosed in families, it can occur in individuals with no history of the condition in their family.

A condition called Dravet syndrome (also known as severe myoclonic epilepsy of infancy or SMEI) is often considered part of the GEFS+ spectrum and is the most severe disorder in this group. Affected infants typically have prolonged seizures lasting several minutes (status epilepticus), which are triggered by fever. Other seizure types, including afebrile seizures, begin in early childhood. These types can include myoclonic or absence seizures. In Dravet syndrome, these seizures are difficult to control with medication, and they can worsen over time. A decline in brain function is also common in Dravet syndrome. Affected individuals usually develop normally in the first year of life, but then development stalls, and some affected children lose already-acquired skills (developmental regression). Many people with Dravet syndrome have difficulty coordinating movements (ataxia) and intellectual disability.

The most common and mildest feature of the GEFS+ spectrum is simple febrile seizures, which begin in infancy and usually stop by age 5. When the febrile seizures continue after age 5 or other types of seizure develop, the condition is called febrile seizures plus (FS+). Seizures in FS+ usually end in early adolescence.

Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders of varying severity. GEFS+ is usually diagnosed in families whose members have a combination of febrile seizures, which are triggered by a high fever, and recurrent seizures (epilepsy) of other types, including seizures that are not related to fevers (afebrile seizures). The additional seizure types usually involve both sides of the brain (generalized seizures); however, seizures that involve only one side of the brain (partial seizures) occur in some affected individuals. The most common types of seizure in people with GEFS+ include myoclonic seizures, which cause involuntary muscle twitches; atonic seizures, which involve sudden episodes of weak muscle tone; and absence seizures, which cause loss of consciousness for short periods that appear as staring spells.  https://medlineplus.gov/genetics/condition/genetic-epilepsy-with-febrile-seizures-plus

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized epilepsy with febrile seizures plus

Professional guidelines

PubMed

Fendri-Kriaa N, Kammoun F, Rebai A, Kolsi D, Hadj Salem I, Fakhfakh F, Triki C
Eur J Neurol 2009 Jun;16(6):697-704. Epub 2009 Feb 19 doi: 10.1111/j.1468-1331.2009.02570.x. PMID: 19236456
Selmer KK, Egeland T, Solaas MH, Nakken KO, Kjeldsen MJ, Friis ML, Brandal K, Corey LA, Undlien DE
Acta Neurol Scand 2008 Apr;117(4):289-92. Epub 2007 Oct 10 doi: 10.1111/j.1600-0404.2007.00941.x. PMID: 17927801
Ferraro TN, Dlugos DJ, Buono RJ
Expert Rev Neurother 2006 Dec;6(12):1789-800. doi: 10.1586/14737175.6.12.1789. PMID: 17181426

Recent clinical studies

Etiology

van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N
Brain 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245. PMID: 37467479Free PMC Article
Zhang YH, Burgess R, Malone JP, Glubb GC, Helbig KL, Vadlamudi L, Kivity S, Afawi Z, Bleasel A, Grattan-Smith P, Grinton BE, Bellows ST, Vears DF, Damiano JA, Goldberg-Stern H, Korczyn AD, Dibbens LM, Ruzzo EK, Hildebrand MS, Berkovic SF, Scheffer IE
Neurology 2017 Sep 19;89(12):1210-1219. Epub 2017 Aug 25 doi: 10.1212/WNL.0000000000004384. PMID: 28842445
Camfield P, Camfield C
Epileptic Disord 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466
Ferraro TN, Dlugos DJ, Buono RJ
Expert Rev Neurother 2006 Dec;6(12):1789-800. doi: 10.1586/14737175.6.12.1789. PMID: 17181426
Lerche H, Jurkat-Rott K, Lehmann-Horn F
Am J Med Genet 2001 Summer;106(2):146-59. doi: 10.1002/ajmg.1582. PMID: 11579435

Diagnosis

van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N
Brain 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245. PMID: 37467479Free PMC Article
Heron SE, Regan BM, Harris RV, Gardner AE, Coleman MJ, Bennett MF, Grinton BE, Helbig KL, Sperling MR, Haut S, Geller EB, Widdess-Walsh P, Pelekanos JT, Bahlo M, Petrovski S, Heinzen EL, Hildebrand MS, Corbett MA, Scheffer IE, Gécz J, Berkovic SF
Neurology 2021 May 4;96(18):e2251-e2260. Epub 2021 Mar 23 doi: 10.1212/WNL.0000000000011855. PMID: 34038384Free PMC Article
Gataullina S, Bienvenu T, Nabbout R, Huberfeld G, Dulac O
Dev Med Child Neurol 2019 Aug;61(8):891-898. Epub 2019 Jan 25 doi: 10.1111/dmcn.14152. PMID: 30680721
Ferraro TN, Dlugos DJ, Buono RJ
Expert Rev Neurother 2006 Dec;6(12):1789-800. doi: 10.1586/14737175.6.12.1789. PMID: 17181426
Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF
Epilepsia 2005;46 Suppl 10:41-7. doi: 10.1111/j.1528-1167.2005.00358.x. PMID: 16359471

Therapy

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. PMID: 21480876
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. 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
Selmer KK, Lund C, Brandal K, Undlien DE, Brodtkorb E
Epilepsy Behav 2009 Nov;16(3):555-7. Epub 2009 Sep 24 doi: 10.1016/j.yebeh.2009.08.021. PMID: 19782004
Camfield P, Camfield C
Epilepsia 2002;43 Suppl 3:27-32. doi: 10.1046/j.1528-1157.43.s.3.3.x. PMID: 12060004

Prognosis

van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N
Brain 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245. PMID: 37467479Free PMC Article
Heron SE, Regan BM, Harris RV, Gardner AE, Coleman MJ, Bennett MF, Grinton BE, Helbig KL, Sperling MR, Haut S, Geller EB, Widdess-Walsh P, Pelekanos JT, Bahlo M, Petrovski S, Heinzen EL, Hildebrand MS, Corbett MA, Scheffer IE, Gécz J, Berkovic SF
Neurology 2021 May 4;96(18):e2251-e2260. Epub 2021 Mar 23 doi: 10.1212/WNL.0000000000011855. PMID: 34038384Free PMC Article
Camfield P, Camfield C
Epileptic Disord 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466
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. 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

Clinical prediction guides

Heron SE, Regan BM, Harris RV, Gardner AE, Coleman MJ, Bennett MF, Grinton BE, Helbig KL, Sperling MR, Haut S, Geller EB, Widdess-Walsh P, Pelekanos JT, Bahlo M, Petrovski S, Heinzen EL, Hildebrand MS, Corbett MA, Scheffer IE, Gécz J, Berkovic SF
Neurology 2021 May 4;96(18):e2251-e2260. Epub 2021 Mar 23 doi: 10.1212/WNL.0000000000011855. PMID: 34038384Free PMC Article
Camfield P, Camfield C
Epileptic Disord 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466
Escayg A, Goldin AL
Epilepsia 2010 Sep;51(9):1650-8. doi: 10.1111/j.1528-1167.2010.02640.x. PMID: 20831750Free PMC Article
Gambardella A, Marini C
Epilepsia 2009 May;50 Suppl 5:20-3. doi: 10.1111/j.1528-1167.2009.02115.x. PMID: 19469841
Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA
Hum Mutat 2005 Jun;25(6):535-42. doi: 10.1002/humu.20178. PMID: 15880351

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