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Page 1
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortiu… See abstract for full author list ➔ May P, et al. Among authors: delanty n. Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17. Lancet Neurol. 2018. PMID: 30033060 Free article.
Novel risk loci in LGI1-antibody encephalitis: genome-wide association study discovery and validation cohorts.
Binks SNM, Elliott KS, Muñiz-Castrillo S, Gilbert E, Kawasaki de Araujo T, Harper AR, Brown AC, Chong AY, Band G, Peris Sempere V, Pinto AL, Costantino F, Rayner NW, Mentzer AJ, Delanty N, Rogemond V, Picard G, Handel AE, Melzer N, Titulaer MJ, Lee ST, Leypoldt F, Kuhlenbaeumer G, Honnorat J, Mignot E, Cavelleri GL, Knight JC, Irani SR. Binks SNM, et al. Among authors: delanty n. Brain. 2024 Oct 26:awae349. doi: 10.1093/brain/awae349. Online ahead of print. Brain. 2024. PMID: 39454566
ILAE genetic literacy series: Focal cortical dysplasia.
Macdonald-Laurs E, Leventer RJ; ILAE Genetics Commission* and the ILAE Genetics Literacy Taskforce**. Macdonald-Laurs E, et al. Epileptic Disord. 2024 Dec 6. doi: 10.1002/epd2.20308. Online ahead of print. Epileptic Disord. 2024. PMID: 39641771 Review.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
The impact of COVID-19 on people with epilepsy: Global results from the coronavirus and epilepsy study.
Vasey MJ, Tai XY, Thorpe J, Jones GD, Ashby S, Hallab A, Ding D, Andraus M, Dugan P, Perucca P, Costello DJ, French JA, O'Brien TJ, Depondt C, Andrade DM, Sengupta R, Datta A, Delanty N, Jette N, Newton CR, Brodie MJ, Devinsky O, Cross JH, Sander JW, Hanna J, Besag FMC, Sen A; COVID‐19 Epilepsy COV‐E Study Group. Vasey MJ, et al. Among authors: delanty n. Epilepsia Open. 2024 Oct;9(5):1931-1947. doi: 10.1002/epi4.13035. Epub 2024 Sep 3. Epilepsia Open. 2024. PMID: 39225433 Free PMC article.
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Marques P, Moloney PB, Ji C, Zulfiqar Ali Q, Ramesh A, Goldstein DB, Barboza K, Chandran I, Rong M, Selvarajah A, Qaiser F, Lira VST, Valiante TA, Bazil CW, Choi H, Devinsky O, Depondt C, O'Brien T, Perucca P, Sen A, Dugan P, Sands TT, Delanty N, Andrade DM. Marques P, et al. Among authors: delanty n. Epilepsy Res. 2024 Oct;206:107425. doi: 10.1016/j.eplepsyres.2024.107425. Epub 2024 Aug 6. Epilepsy Res. 2024. PMID: 39168079
Impact of JQ1 treatment on seizures, hippocampal gene expression, and gliosis in a mouse model of temporal lobe epilepsy.
Harnett A, Mathoux J, Wilson MM, Heiland M, Mamad O, Srinivas S, Sanfeliu A, Sanz-Rodriguez A, How KLE, Delanty N, Cryan J, Brett FM, Farrell MA, O'Brien DF, Henshall DC, Brennan GP. Harnett A, et al. Among authors: delanty n. Eur J Neurosci. 2024 Sep;60(6):5266-5283. doi: 10.1111/ejn.16499. Epub 2024 Aug 16. Eur J Neurosci. 2024. PMID: 39149798
293 results