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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.
International League Against Epilepsy Consortium on Complex Epilepsies. International League Against Epilepsy Consortium on Complex Epilepsies. Nat Genet. 2023 Sep;55(9):1471-1482. doi: 10.1038/s41588-023-01485-w. Epub 2023 Aug 31. Nat Genet. 2023. PMID: 37653029 Free PMC article.
Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment....
Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment....
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.
The additional role of somatic mosaicism in the pathogenesis of focal epilepsies may have implications for surgical planning and prognostication. Here, we advocate for including genomic data in the presurgical evaluation and multidisciplinary discussion for many epilepsy s …
The additional role of somatic mosaicism in the pathogenesis of focal epilepsies may have implications for surgical planning and prognost …
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
METHODS: We analyzed exome sequence data from 267 multiplex families and 859 first-degree relative pairs with a diagnosis of genetic generalized epilepsies or nonacquired focal epilepsies to predict CNVs. Validation and segregation studies were performed using an orthogona …
METHODS: We analyzed exome sequence data from 267 multiplex families and 859 first-degree relative pairs with a diagnosis of genetic general …
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.
No specific treatment is available for most of the monogenic disorders that can now be diagnosed early using NGS, and the main benefits of knowing the specific cause include etiological diagnosis, better prognostication and genetic counselling; however, for a limited numbe …
No specific treatment is available for most of the monogenic disorders that can now be diagnosed early using NGS, and the main benefits of k …
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
All recruited patients presented typical CAE features and good prognosis. To date, CAE has been considered a complex disease caused by multiple susceptibility genes. ...
All recruited patients presented typical CAE features and good prognosis. To date, CAE has been considered a complex disease caused b …
A systems medicine strategy to predict the efficacy of drugs for monogenic epilepsies.
Taweel B, Marson AG, Mirza N. Taweel B, et al. Epilepsia. 2022 Dec;63(12):3125-3133. doi: 10.1111/epi.17429. Epub 2022 Oct 25. Epilepsia. 2022. PMID: 36196775 Free PMC article.
Treatments for a disease can be discovered more quickly and economically by computationally predicting drugs that can be repurposed for it. We aimed to create a computational method to predict the efficacy of drugs for monogenic epilepsies, and to use the method to …
Treatments for a disease can be discovered more quickly and economically by computationally predicting drugs that can be repurposed f …
Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.
Delahaye-Duriez A, Srivastava P, Shkura K, Langley SR, Laaniste L, Moreno-Moral A, Danis B, Mazzuferi M, Foerch P, Gazina EV, Richards K, Petrou S, Kaminski RM, Petretto E, Johnson MR. Delahaye-Duriez A, et al. Genome Biol. 2016 Dec 13;17(1):245. doi: 10.1186/s13059-016-1097-7. Genome Biol. 2016. PMID: 27955713 Free PMC article.
Using the large collection of drug-induced gene expression data from Connectivity Map, several drugs were predicted to preferentially restore the downregulation of M30 in epilepsy toward health, most notably valproic acid, whose effect on M30 expression was replicated in n …
Using the large collection of drug-induced gene expression data from Connectivity Map, several drugs were predicted to preferentially …
Sodium-channel defects in benign familial neonatal-infantile seizures.
Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC, Mulley JC, Berkovic SF, Scheffer IE. Heron SE, et al. Lancet. 2002 Sep 14;360(9336):851-2. doi: 10.1016/S0140-6736(02)09968-3. Lancet. 2002. PMID: 12243921
This clinico-molecular correlation defines a new benign familial epilepsy syndrome beginning in early infancy, an age at which seizure disorders frequently have a sombre prognosis....
This clinico-molecular correlation defines a new benign familial epilepsy syndrome beginning in early infancy, an age at which seizure disor …
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.
Kurian M, Korff CM, Ranza E, Bernasconi A, Lübbig A, Nangia S, Ramelli GP, Wohlrab G, Nordli DR Jr, Bast T. Kurian M, et al. Dev Med Child Neurol. 2018 Jan;60(1):100-105. doi: 10.1111/dmcn.13595. Epub 2017 Oct 24. Dev Med Child Neurol. 2018. PMID: 29064093 Free article.
In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological fea …
In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of …
Association of the nicotinic receptor beta 2 subunit and febrile seizures.
Peng CT, Chou IC, Li CI, Hsu YA, Tsai CH, Tsai FJ. Peng CT, et al. Pediatr Neurol. 2004 Mar;30(3):186-9. doi: 10.1016/j.pediatrneurol.2003.08.001. Pediatr Neurol. 2004. PMID: 15033200
These data suggest that nicotinic acetylcholine receptor beta 2 subunit polymorphisms are not a useful marker for prediction of the susceptibility to febrile seizures....
These data suggest that nicotinic acetylcholine receptor beta 2 subunit polymorphisms are not a useful marker for prediction of the s …