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Year Number of Results
2017 3
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2019 3
2020 2
2021 3
2022 2
2023 1
2024 1

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Genomics in the presurgical epilepsy evaluation.
Moloney PB, Dugan P, Widdess-Walsh P, Devinsky O, Delanty N. Moloney PB, et al. Epilepsy Res. 2022 Aug;184:106951. doi: 10.1016/j.eplepsyres.2022.106951. Epub 2022 May 30. Epilepsy Res. 2022. PMID: 35691218 Review.
Recent advances in epilepsy genetics.
Orsini A, Zara F, Striano P. Orsini A, et al. Neurosci Lett. 2018 Feb 22;667:4-9. doi: 10.1016/j.neulet.2017.05.014. Epub 2017 May 10. Neurosci Lett. 2018. PMID: 28499889 Review.
Genes4Epilepsy: An epilepsy gene resource.
Oliver KL, Scheffer IE, Bennett MF, Grinton BE, Bahlo M, Berkovic SF. Oliver KL, et al. Epilepsia. 2023 May;64(5):1368-1375. doi: 10.1111/epi.17547. Epub 2023 Mar 9. Epilepsia. 2023. PMID: 36808730 Free PMC article.
Genes associated with common epilepsy syndromes were more likely to be dominantly inherited and associated with multiple epilepsy types. SIGNIFICANCE: Our curated list of monogenic epilepsy genes is publicly available: github.com/bahlolab/genes4epilepsy and will be …
Genes associated with common epilepsy syndromes were more likely to be dominantly inherited and associated with multiple epilepsy types. SIG …
The role of copy number variants in the genetic architecture of common familial epilepsies.
Epi4K Consortium. Epi4K Consortium. Epilepsia. 2024 Mar;65(3):792-804. doi: 10.1111/epi.17860. Epub 2024 Jan 20. Epilepsia. 2024. PMID: 38101940
RESULTS: We identified CNVs likely to contribute to epilepsy risk or etiology in the probands of 43 of 1116 (3.9%) families, including known recurrent CNVs (16p13.11 deletion, 15q13.3 deletion, 15q11.2 deletion, 16p11.2 duplication, 1q21.1 duplication, and 5-Mb duplication of 15q …
RESULTS: We identified CNVs likely to contribute to epilepsy risk or etiology in the probands of 43 of 1116 (3.9%) families, including known …
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
Mei D, Parrini E, Marini C, Guerrini R. Mei D, et al. Mol Diagn Ther. 2017 Aug;21(4):357-373. doi: 10.1007/s40291-017-0257-0. Mol Diagn Ther. 2017. PMID: 28197949 Review.
Next-generation sequencing (NGS) has contributed to the identification of many monogenic epilepsy syndromes and is favouring earlier and more accurate diagnosis in a subset of paediatric patients with epilepsy. ...
Next-generation sequencing (NGS) has contributed to the identification of many monogenic epilepsy syndromes and is favouring e …
Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.
Krenn M, Schloegl M, Pataraia E, Gelpi E, Schröder S, Rauscher C, Mayr JA, Kotzot D, Zimprich F, Meitinger T, Wagner M. Krenn M, et al. Seizure. 2021 Apr;87:25-29. doi: 10.1016/j.seizure.2021.02.027. Epub 2021 Feb 27. Seizure. 2021. PMID: 33677401 Free article.
CONCLUSIONS: Our findings confirm the wide clinical range ofSTX1B-related epileptic conditions and highlight the necessity of genetic testing prior to epilepsy surgery in cases with monogenic epilepsy. The identification of loss-of-function variants in very differen …
CONCLUSIONS: Our findings confirm the wide clinical range ofSTX1B-related epileptic conditions and highlight the necessity of genetic testin …
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.
Willimsky EK, Munzig A, Mayer K, Biskup S, Abicht A, Hoertnagel K, Voss HV, Klein HG, Rost I, Larsen LHG, Dahl HA, Hoelz H, Stuelpnagel CV, Borggraefe I. Willimsky EK, et al. Neuropediatrics. 2021 Apr;52(2):92-97. doi: 10.1055/s-0040-1712488. Epub 2020 Oct 21. Neuropediatrics. 2021. PMID: 33086385
INTRODUCTION: Next generation sequencing (NGS) with customized gene panels is a helpful tool to identify monogenic epilepsy syndromes. The number of genes tested within a customized panel may vary greatly. ...
INTRODUCTION: Next generation sequencing (NGS) with customized gene panels is a helpful tool to identify monogenic epilepsy sy …
New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies.
Magalhães PHM, Moraes HT, Athie MCP, Secolin R, Lopes-Cendes I. Magalhães PHM, et al. Epilepsy Behav. 2021 Aug;121(Pt B):106428. doi: 10.1016/j.yebeh.2019.07.029. Epub 2019 Aug 7. Epilepsy Behav. 2021. PMID: 31400936 Free article. Review.
The knowledge generated over the past two decades about the effects of the mutations that cause the monogenic epilepsy is tremendous; however, the scientific community is just starting to apply this information in order to generate better target treatments....
The knowledge generated over the past two decades about the effects of the mutations that cause the monogenic epilepsy is trem …
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.
Xie H, Su W, Pei J, Zhang Y, Gao K, Li J, Ma X, Zhang Y, Wu X, Jiang Y. Xie H, et al. Epilepsy Res. 2019 Aug;154:55-61. doi: 10.1016/j.eplepsyres.2019.04.005. Epub 2019 Apr 22. Epilepsy Res. 2019. PMID: 31054517
In this study, we observed that 3% of typical CAE patients had a de novo mutation of a known monogenic epilepsy-related gene. Our study suggests that a significant proportion of typical CAE cases may be monogenic forms of epilepsy. ...
In this study, we observed that 3% of typical CAE patients had a de novo mutation of a known monogenic epilepsy-related gene. …
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
Arnaud L, Abi Warde MT, Barcia G, de Bellescize J, Chatron N, Faoucher M, de Saint Martin A, Héron D, Jedraszak G, Lacoste C, Lèbre AS, Jenneson-Lyver M, Labalme A, Leguern E, Mignot C, Milh M, Nabbout R, Nava C, Panagiotakaki E, Piton A, Schaefer E, Thevenon J, Villard L, Ville D, Lesca G. Arnaud L, et al. Eur J Med Genet. 2022 Mar;65(3):104445. doi: 10.1016/j.ejmg.2022.104445. Epub 2022 Jan 25. Eur J Med Genet. 2022. PMID: 35091117
RESULTS: Since 2014, biannual meetings have led to the design of four successive versions of a monogenic epilepsy gene panel (PAGEM), increasing from 68 to 144 genes. ...
RESULTS: Since 2014, biannual meetings have led to the design of four successive versions of a monogenic epilepsy gene panel ( …
12 results