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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
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
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: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.
Atonic seizure
MedGen UID:
78735
Concept ID:
C0270846
Disease or Syndrome
Generalized tonic-clonic seizures
MedGen UID:
141670
Concept ID:
C0494475
Disease or Syndrome
A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.
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.
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 characterised 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.

Recent clinical studies

Diagnosis

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
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
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
Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K
J Neurosci 2004 Mar 17;24(11):2690-8. doi: 10.1523/JNEUROSCI.3089-03.2004. PMID: 15028761Free PMC Article
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

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

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

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
Ceulemans BP, Claes LR, Lagae LG
Pediatr Neurol 2004 Apr;30(4):236-43. doi: 10.1016/j.pediatrneurol.2003.10.012. PMID: 15087100
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
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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