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Epilepsy, familial focal, with variable foci 1(FFEVF1)

MedGen UID:
1641798
Concept ID:
C4551983
Disease or Syndrome
Synonyms: DEPDC5-Related Epilepsy; FFEVF1
 
Gene (location): DEPDC5 (22q12.2-12.3)
 
Monarch Initiative: MONDO:0024556
OMIM®: 604364

Disease characteristics

Excerpted from the GeneReview: DEPDC5-Related Epilepsy
DEPDC5-related epilepsy encompasses a range of epilepsy syndromes, almost all of which are characterized by focal seizures, with seizure onset in a discrete area of the brain. While most individuals with DEPDC5-related epilepsy have a normal brain MRI, some have epilepsy associated with a cortical malformation, usually focal cortical dysplasia or hemimegalencephaly. Seizure syndromes include familial focal epilepsy with variable foci (FFEVF), autosomal dominant sleep-related hypermotor epilepsy (ADSHE), familial mesial temporal lobe epilepsies (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), infantile spasms, and severe developmental encephalopathy. Although psychomotor development is usually normal, developmental delays, intellectual disability, or autism spectrum disorder have been reported in some individuals. [from GeneReviews]
Authors:
Stéphanie Baulac  |  Sara Baldassari   view full author information

Additional description

From MedlinePlus Genetics
Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of recurrent seizures (epilepsy) that runs in families. Seizures associated with FFEVF can begin at any time from infancy to adulthood. The seizures are described as focal or partial, which means they begin in one region of the brain and do not cause a loss of consciousness. In more than 70 percent of affected individuals, these seizures begin in one of two areas of the brain, either the temporal lobe or the frontal lobe. The region of the brain where the seizures start tends to stay the same over time. In rare instances, seizure activity that starts in one area spreads to affect the entire brain and causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.

Among family members with FFEVF, individuals may not have the same brain region affected (variable foci), meaning that one person's seizures may not begin in the same part of the brain as their affected relative.

Some individuals with FFEVF also have a brain malformation called focal cortical dysplasia. Seizures in these individuals are typically not well-controlled with medication.

Most people with FFEVF are intellectually normal, and there are no problems with their brain function between seizures. However, some people with FFEVF have developed psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals.  https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Nocturnal seizures
MedGen UID:
581539
Concept ID:
C0393719
Disease or Syndrome
Seizures that occur while the affected individual is sleeping.
Hemimegalencephaly
MedGen UID:
140910
Concept ID:
C0431391
Finding
Enlargement of all or parts of one cerebral hemisphere.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Isolated focal cortical dysplasia type II
MedGen UID:
339510
Concept ID:
C1846385
Congenital Abnormality
Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).
Focal cortical dysplasia
MedGen UID:
853938
Concept ID:
C2938983
Congenital Abnormality
A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Focal cortical dysplasia, type IIA
MedGen UID:
1384182
Concept ID:
C4478700
Disease or Syndrome
A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.
Focal cortical dysplasia type I
MedGen UID:
1670970
Concept ID:
C4732821
Congenital Abnormality
A type of focal cortical dysplasia that is characterized by abnormal cortical layering.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Wang Z, Guo J, van 't Klooster M, Hoogteijling S, Jacobs J, Zijlmans M
Neurology 2024 May 14;102(9):e209216. Epub 2024 Apr 1 doi: 10.1212/WNL.0000000000209216. PMID: 38560817
Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S
Epilepsia 2016 Jun;57(6):994-1003. Epub 2016 May 13 doi: 10.1111/epi.13391. PMID: 27173016
Kokkinos V, Koupparis AM, Tsiptsios D, Kostopoulos GK, Koutroumanidis M
Epileptic Disord 2013 Mar;15(1):14-26. doi: 10.1684/epd.2013.0561. PMID: 23702456
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
Jehi LE, Silveira DC, Bingaman W, Najm I
J Neurosurg 2010 Dec;113(6):1186-94. Epub 2010 Sep 10 doi: 10.3171/2010.8.JNS10180. PMID: 20831360

Diagnosis

Gu C, Lu X, Ma J, Pu L, Zhi X, Shu J, Li D, Cai C
BMC Pediatr 2022 Jul 30;22(1):459. doi: 10.1186/s12887-022-03515-8. PMID: 35907814Free PMC Article
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
Aberastury M, Fernández R, Córdoba M, Comas B, Peralta M, Agosta G, Kauffman M, Silva W
Epileptic Disord 2019 Feb 1;21(1):42-47. doi: 10.1684/epd.2019.1025. PMID: 30767899
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

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
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
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
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
Jehi LE, Silveira DC, Bingaman W, Najm I
J Neurosurg 2010 Dec;113(6):1186-94. Epub 2010 Sep 10 doi: 10.3171/2010.8.JNS10180. PMID: 20831360

Clinical prediction guides

Wang Z, Guo J, van 't Klooster M, Hoogteijling S, Jacobs J, Zijlmans M
Neurology 2024 May 14;102(9):e209216. Epub 2024 Apr 1 doi: 10.1212/WNL.0000000000209216. PMID: 38560817
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
Jehi LE, Silveira DC, Bingaman W, Najm I
J Neurosurg 2010 Dec;113(6):1186-94. Epub 2010 Sep 10 doi: 10.3171/2010.8.JNS10180. PMID: 20831360

Recent systematic reviews

Wang Z, Guo J, van 't Klooster M, Hoogteijling S, Jacobs J, Zijlmans M
Neurology 2024 May 14;102(9):e209216. Epub 2024 Apr 1 doi: 10.1212/WNL.0000000000209216. PMID: 38560817

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