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Familial Epilepsies

MedGen UID:
1381690
•Concept ID:
C0391958
•
Disease or Syndrome
Synonyms: Epilepsies, Familial; Epilepsy, Familial; Familial Epilepsy

Professional guidelines

PubMed

Genetic testing before epilepsy surgery - An exploratory survey and case collection from German epilepsy centers.
Boßelmann CM, San Antonio-Arce V, Schulze-Bonhage A, Fauser S, Zacher P, Mayer T, Aparicio J, Albers K, Cloppenborg T, Kunz W, Surges R, Syrbe S, Weber Y, Wolking S
Seizure 2022 Feb;95:4-10. Epub 2021 Dec 17 doi: 10.1016/j.seizure.2021.12.004. PMID: 34953286
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C
Epilepsia 2013 Mar;54(3):425-36. Epub 2013 Jan 29 doi: 10.1111/epi.12089. PMID: 23360469

Recent clinical studies

Etiology

Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.
Oliver KL, Scheffer IE, Ellis CA, Grinton BE; Epi4K Consortium, Berkovic SF, Bahlo M
EBioMedicine 2024 Nov;109:105404. Epub 2024 Oct 30 doi: 10.1016/j.ebiom.2024.105404. PMID: 39476534Free PMC Article
The role of copy number variants in the genetic architecture of common familial epilepsies.
Epi4K Consortium
Epilepsia 2024 Mar;65(3):792-804. Epub 2024 Jan 20 doi: 10.1111/epi.17860. PMID: 38101940Free PMC Article
Pentanucleotide repeat-related disorders: Genetics and bioinformatic discovery and detection.
Silveira I, Bennett MF
Epilepsia 2023 Jun;64 Suppl 1:S22-S30. Epub 2023 Apr 4 doi: 10.1111/epi.17593. PMID: 36960686
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.
Oliver KL, Ellis CA, Scheffer IE, Ganesan S, Leu C, Sadleir LG, Heinzen EL, Mefford HC, Bass AJ, Curtis SW, Harris RV; Epi4K Consortium, Whiteman DC, Helbig I, Ottman R, Epstein MP, Bahlo M, Berkovic SF
EBioMedicine 2022 Jul;81:104079. Epub 2022 May 27 doi: 10.1016/j.ebiom.2022.104079. PMID: 35636315Free PMC Article
The "maternal effect" on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence.
Ellis CA, Berkovic SF, Epstein MP, Ottman R; Epi4K Consortium
Ann Neurol 2020 Jan;87(1):132-138. Epub 2019 Nov 18 doi: 10.1002/ana.25625. PMID: 31637767Free PMC Article

Diagnosis

The role of copy number variants in the genetic architecture of common familial epilepsies.
Epi4K Consortium
Epilepsia 2024 Mar;65(3):792-804. Epub 2024 Jan 20 doi: 10.1111/epi.17860. PMID: 38101940Free PMC Article
Pentanucleotide repeat-related disorders: Genetics and bioinformatic discovery and detection.
Silveira I, Bennett MF
Epilepsia 2023 Jun;64 Suppl 1:S22-S30. Epub 2023 Apr 4 doi: 10.1111/epi.17593. PMID: 36960686
ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy.
Millevert C, Weckhuysen S; ILAE Genetics Commission
Epileptic Disord 2023 Aug;25(4):445-453. Epub 2023 Jun 22 doi: 10.1002/epd2.20026. PMID: 36939707
The contribution of next generation sequencing to epilepsy genetics.
Møller RS, Dahl HA, Helbig I
Expert Rev Mol Diagn 2015;15(12):1531-8. Epub 2015 Nov 13 doi: 10.1586/14737159.2015.1113132. PMID: 26565596
The epilepsies.
Rees M, Gardiner RM
Baillieres Clin Neurol 1994 Aug;3(2):297-313. PMID: 7952849

Therapy

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
Zeng Q, Yang X, Zhang J, Liu A, Yang Z, Liu X, Wu Y, Wu X, Wei L, Zhang Y
J Hum Genet 2018 Jan;63(1):9-18. Epub 2017 Nov 13 doi: 10.1038/s10038-017-0359-x. PMID: 29215089Free PMC Article

Prognosis

Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.
Oliver KL, Scheffer IE, Ellis CA, Grinton BE; Epi4K Consortium, Berkovic SF, Bahlo M
EBioMedicine 2024 Nov;109:105404. Epub 2024 Oct 30 doi: 10.1016/j.ebiom.2024.105404. PMID: 39476534Free PMC Article
The role of copy number variants in the genetic architecture of common familial epilepsies.
Epi4K Consortium
Epilepsia 2024 Mar;65(3):792-804. Epub 2024 Jan 20 doi: 10.1111/epi.17860. PMID: 38101940Free PMC Article
Epilepsy in families: Age at onset is a familial trait, independent of syndrome.
Ellis CA, Churilov L, Epstein MP, Xie SX, Bellows ST, Ottman R, Berkovic SF; Epi4K Consortium
Ann Neurol 2019 Jul;86(1):91-98. Epub 2019 May 20 doi: 10.1002/ana.25499. PMID: 31050039Free PMC Article
Profile of neonatal epilepsies: Characteristics of a prospective US cohort.
Shellhaas RA, Wusthoff CJ, Tsuchida TN, Glass HC, Chu CJ, Massey SL, Soul JS, Wiwattanadittakun N, Abend NS, Cilio MR; Neonatal Seizure Registry
Neurology 2017 Aug 29;89(9):893-899. Epub 2017 Jul 21 doi: 10.1212/WNL.0000000000004284. PMID: 28733343Free PMC Article
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C
Epilepsia 2013 Mar;54(3):425-36. Epub 2013 Jan 29 doi: 10.1111/epi.12089. PMID: 23360469

Clinical prediction guides

Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.
Oliver KL, Scheffer IE, Ellis CA, Grinton BE; Epi4K Consortium, Berkovic SF, Bahlo M
EBioMedicine 2024 Nov;109:105404. Epub 2024 Oct 30 doi: 10.1016/j.ebiom.2024.105404. PMID: 39476534Free PMC Article
The role of copy number variants in the genetic architecture of common familial epilepsies.
Epi4K Consortium
Epilepsia 2024 Mar;65(3):792-804. Epub 2024 Jan 20 doi: 10.1111/epi.17860. PMID: 38101940Free PMC Article
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.
Oliver KL, Ellis CA, Scheffer IE, Ganesan S, Leu C, Sadleir LG, Heinzen EL, Mefford HC, Bass AJ, Curtis SW, Harris RV; Epi4K Consortium, Whiteman DC, Helbig I, Ottman R, Epstein MP, Bahlo M, Berkovic SF
EBioMedicine 2022 Jul;81:104079. Epub 2022 May 27 doi: 10.1016/j.ebiom.2022.104079. PMID: 35636315Free PMC Article
The "maternal effect" on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence.
Ellis CA, Berkovic SF, Epstein MP, Ottman R; Epi4K Consortium
Ann Neurol 2020 Jan;87(1):132-138. Epub 2019 Nov 18 doi: 10.1002/ana.25625. PMID: 31637767Free PMC Article
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C
Epilepsia 2013 Mar;54(3):425-36. Epub 2013 Jan 29 doi: 10.1111/epi.12089. PMID: 23360469

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