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Familial focal epilepsy with variable foci(FPEVF)

MedGen UID:
348951
Concept ID:
C1858477
Disease or Syndrome
Synonym: FPEVF
SNOMED CT: FFEVF - familial focal epilepsy with variable foci (764522009); Familial focal epilepsy with variable foci (764522009); Familial partial epilepsy with variable foci (764522009)
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.
 
Related genes: NPRL2, DEPDC5, NPRL3
 
Monarch Initiative: MONDO:0020310
OMIM®: 604364
OMIM® Phenotypic series: PS604364
Orphanet: ORPHA98820

Definition

Familial focal epilepsy with variable foci-1 (FFEVF1) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete at about 70%. The phenotypic spectrum of FFEVF1 is wide, and may include nocturnal epilepsy, febrile seizures, and focal epilepsy with febrile seizures-plus (FEFS+) (summary by Klein et al., 2012; Liu et al., 2020). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD), which may be associated with additional somatic mosaic loss-of-function DEPDC5 mutations in affected brain tissue (Baulac et al., 2015). Reviews Samanta (2022) provided a review of DEPDC5-related epilepsy, noting that there is a phenotypic spectrum, including autosomal dominant sleep-related hypermotor epilepsy (ADSHE), familial mesial temporal lobe epilepsy (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), febrile seizures and febrile seizures-plus (FEFS+), rolandic epilepsy, infantile spasms, and sudden unexpected death in epilepsy (SUDEP). The disorder results from enhanced activation of the mTOR (601231) signaling pathway. Genetic Heterogeneity of Familial Focal Epilepsy with Variable Foci See also FFEVF2 (617116), caused by mutation in the NPRL2 gene (607072) on chromosome 3p21; FFEVF3 (617118), caused by mutation in the NPRL3 gene (600928) on chromosome 16p13; and FFEVF4 (617935), caused by mutation in the SCN3A gene (182391) on chromosome 2q24. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Familial focal epilepsy with variable foci in Orphanet.

Recent clinical studies

Etiology

Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S
Nat Genet 2013 May;45(5):552-5. Epub 2013 Mar 31 doi: 10.1038/ng.2601. PMID: 23542701Free PMC Article
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE
Nat Genet 2013 May;45(5):546-51. Epub 2013 Mar 31 doi: 10.1038/ng.2599. PMID: 23542697

Diagnosis

Samanta D
Epilepsy Behav 2022 May;130:108678. Epub 2022 Apr 14 doi: 10.1016/j.yebeh.2022.108678. PMID: 35429726
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Zhang J, Shen Y, Yang Z, Yang F, Li Y, Yu B, Chen W, Gan J
J Hum Genet 2022 Feb;67(2):79-85. Epub 2021 Aug 11 doi: 10.1038/s10038-021-00969-z. PMID: 34376795Free PMC Article
Li M, Huang Z, Zhang X, Duan Y, Jia Y, Ye J, Wang Y
Epileptic Disord 2019 Jun 1;21(3):289-294. doi: 10.1684/epd.2019.1066. PMID: 31225799
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE
Nat Genet 2013 May;45(5):546-51. Epub 2013 Mar 31 doi: 10.1038/ng.2599. PMID: 23542697

Prognosis

Yang D, Wang J, Qin Z, Feng J, Mao C, Chen Y, Huang X, Ruan Y
Epilepsia Open 2024 Feb;9(1):33-40. Epub 2023 Nov 28 doi: 10.1002/epi4.12856. PMID: 37902097Free PMC Article
Bartolini E, Della Vecchia S, Biagioni T, Montanaro D, Ferrari AR
Neuropediatrics 2023 Oct;54(5):347-350. Epub 2023 Apr 1 doi: 10.1055/a-2067-5096. PMID: 37003255
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Zhang J, Shen Y, Yang Z, Yang F, Li Y, Yu B, Chen W, Gan J
J Hum Genet 2022 Feb;67(2):79-85. Epub 2021 Aug 11 doi: 10.1038/s10038-021-00969-z. PMID: 34376795Free PMC Article
Striano P, Serioli E, Santulli L, Manna I, Labate A, Dazzo E, Pasini E, Gambardella A, Michelucci R, Striano S, Nobile C
Epilepsia 2015 Oct;56(10):e168-71. Epub 2015 Jul 27 doi: 10.1111/epi.13094. PMID: 26216793

Clinical prediction guides

Yang D, Wang J, Qin Z, Feng J, Mao C, Chen Y, Huang X, Ruan Y
Epilepsia Open 2024 Feb;9(1):33-40. Epub 2023 Nov 28 doi: 10.1002/epi4.12856. PMID: 37902097Free PMC Article
Dainelli A, Iacomino M, Rossato S, Bugin S, Traverso M, Severino M, Gustincich S, Capra V, Di Duca M, Zara F, Scala M, Striano P
Epilepsia Open 2023 Dec;8(4):1314-1330. Epub 2023 Sep 1 doi: 10.1002/epi4.12798. PMID: 37491868Free PMC Article
Wang Y, Yu P, Zhu G, Wu X, Ding D, Hong Z
PLoS One 2023;18(4):e0284924. Epub 2023 Apr 26 doi: 10.1371/journal.pone.0284924. PMID: 37099548Free PMC Article
Striano P, Serioli E, Santulli L, Manna I, Labate A, Dazzo E, Pasini E, Gambardella A, Michelucci R, Striano S, Nobile C
Epilepsia 2015 Oct;56(10):e168-71. Epub 2015 Jul 27 doi: 10.1111/epi.13094. PMID: 26216793
Martin C, Meloche C, Rioux MF, Nguyen DK, Carmant L, Andermann E, Gravel M, Cossette P
Clin Genet 2014 Dec;86(6):570-4. Epub 2013 Nov 27 doi: 10.1111/cge.12311. PMID: 24283814

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