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Generalized epilepsy with febrile seizures plus, type 7(GEFSP7)

MedGen UID:
416630
•Concept ID:
C2751778
•
Disease or Syndrome
Synonyms: GEFS+, TYPE 7; GEFSP7; SCN9A-Related Generalized Epilepsy with Febrile Seizures Plus
 
Monarch Initiative: MONDO:0013470
OMIM®: 613863

Definition

Patients with isolated febrile seizures (FEB3B) usually have onset between ages 5 months to 4 years and show spontaneous remission by age 6 years (summary by Singh et al., 2009), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210. [from OMIM]

Clinical features

From HPO
Febrile seizure (within the age range of 3 months to 6 years)
MedGen UID:
3232
•Concept ID:
C0009952
•
Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
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Atonic seizure
MedGen UID:
78735
•Concept ID:
C0270846
•
Disease or Syndrome
Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.
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Bilateral tonic-clonic seizure
MedGen UID:
141670
•Concept ID:
C0494475
•
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
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Focal-onset seizure
MedGen UID:
199670
•Concept ID:
C0751495
•
Disease or Syndrome
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
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Generalized non-motor (absence) seizure
MedGen UID:
1385688
•Concept ID:
C4316903
•
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
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Recent clinical studies

Etiology

Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort.
Riza AL, Streață I, Roza E, Budișteanu M, Iliescu C, Burloiu C, Dobrescu MA, Dorobanțu S, Dragoș A, Grigorescu A, Tătaru T, Ioana M, Teleanu R
Genes (Basel) 2022 Jul 15;13(7) doi: 10.3390/genes13071253. PMID: 35886038Free PMC Article

Diagnosis

Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort.
Riza AL, Streață I, Roza E, Budișteanu M, Iliescu C, Burloiu C, Dobrescu MA, Dorobanțu S, Dragoș A, Grigorescu A, Tătaru T, Ioana M, Teleanu R
Genes (Basel) 2022 Jul 15;13(7) doi: 10.3390/genes13071253. PMID: 35886038Free PMC Article
A human mutation in Gabrg2 associated with generalized epilepsy alters the membrane dynamics of GABAA receptors.
Bouthour W, Leroy F, Emmanuelli C, Carnaud M, Dahan M, Poncer JC, Lévi S
Cereb Cortex 2012 Jul;22(7):1542-53. Epub 2011 Sep 9 doi: 10.1093/cercor/bhr225. PMID: 21908847
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC
Epilepsia 2009 Jul;50(7):1670-8. Epub 2009 Mar 12 doi: 10.1111/j.1528-1167.2009.02013.x. PMID: 19400878
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
Ceulemans BP, Claes LR, Lagae LG
Pediatr Neurol 2004 Apr;30(4):236-43. doi: 10.1016/j.pediatrneurol.2003.10.012. PMID: 15087100
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH
Am J Hum Genet 2001 Apr;68(4):866-73. Epub 2001 Mar 14 doi: 10.1086/319524. PMID: 11254445Free PMC Article

Therapy

Milder phenotype with SCN1A truncation mutation other than SMEI.
Yu MJ, Shi YW, Gao MM, Deng WY, Liu XR, Chen L, Long YS, Yi YH, Liao WP
Seizure 2010 Sep;19(7):443-5. Epub 2010 Jul 14 doi: 10.1016/j.seizure.2010.06.010. PMID: 20630778

Prognosis

Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family.
Zhang T, Chen M, Zhu A, Zhang X, Fang T
Neurol Sci 2020 Jul;41(7):1913-1917. Epub 2020 Feb 15 doi: 10.1007/s10072-020-04284-x. PMID: 32062735Free PMC Article

Clinical prediction guides

Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family.
Zhang T, Chen M, Zhu A, Zhang X, Fang T
Neurol Sci 2020 Jul;41(7):1913-1917. Epub 2020 Feb 15 doi: 10.1007/s10072-020-04284-x. PMID: 32062735Free PMC Article
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
Ceulemans BP, Claes LR, Lagae LG
Pediatr Neurol 2004 Apr;30(4):236-43. doi: 10.1016/j.pediatrneurol.2003.10.012. PMID: 15087100
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH
Am J Hum Genet 2001 Apr;68(4):866-73. Epub 2001 Mar 14 doi: 10.1086/319524. PMID: 11254445Free PMC Article
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
Nakayama J, Hamano K, Iwasaki N, Nakahara S, Horigome Y, Saitoh H, Aoki T, Maki T, Kikuchi M, Migita T, Ohto T, Yokouchi Y, Tanaka R, Hasegawa M, Matsui A, Hamaguchi H, Arinami T
Hum Mol Genet 2000 Jan 1;9(1):87-91. doi: 10.1093/hmg/9.1.87. PMID: 10587582

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