Výsledky vyhledávání

Polygenic burden in focal and generalized epilepsies

Autor: Leu C., Stevelink R., Smith A. W., Goleva S. B., Kanai M., Ferguson L., Campbell C., Kamatani Y., Okada Y., Sisodiya S. M., Cavalleri G. L., Koeleman B. P. C., Lerche H., Jehi L., Davis L. K., Najm I. M., Palotie A., Daly M. J., Busch R. M., Lal D., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Churchhouse C., Gupta N., Neale B. M., Berkovic S. F., Goldstein D. B., Lowenstein D. H., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bellows S. T., Bennett C. A., Johns E. M. C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T. J., Todaro M., Stamberger H., Andrade D. M., Sadoway T. R., Mo K., Krestel H., Gallati S., Papacostas S. S., Kousiappa I., Tanteles G. A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Kunz W. S., Zsurka G., Elger C. E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., Van Baalen A., Von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A. F., Steinhoff B. J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C. J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A. -E., Rees M. I., Chung S. -K., Pickrell W. O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Barisic N., Delanty N., Doherty C. P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M. S., Mancardi M. M., Salpietro V., Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Muccioli L., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Birute T., Ruta M., Algirdas U., Ruta P., Jurgita G., Ruta S., Sadleir L. G., King C., Mountier E., Caglayan S. H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Sheidley B. R., Shain C., Poduri A., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Khankhanian P., Helbig K. L., Ellis C. A., Spalletta G., Piras F., Gili T., Ciullo V.

Publikováno v: Brain
142 (2019): 3473–3481. doi:10.1093/brain/awz292
info:cnr-pdr/source/autori:Leu, Costin; Stevelink, Remi; Smith, Alexander W.; Goleva, Slavina B.; Kanai, Masahiro; Ferguson, Lisa; Campbell, Ciaran; Kamatani, Yoichiro; Okada, Yukinori; Sisodiya, Sanjay M.; Cavalleri, Gianpiero L.; Koeleman, Bobby P.C.; Lerche, Holger; Jehi, Lara; Davis, Lea K.; Najm, Imad M.; Palotie, Aarno; Daly, Mark J.; Busch, Robyn M.; Lal, Dennis; Feng, Yen Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Churchhouse, Claire; Gupta, Namrata; Neale, Benjamin M.; Berkovic, Samuel F.; Goldstein, David B.; Lowenstein, Daniel H.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slavé; Kamalakaran, Sitharthan; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bellows, Susannah T.; Bennett, Caitlin A.; Johns, Esther M.C.; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Sadoway, Tara R.; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; ?terbová, Katalin; Vlcková, Markéta; Sedlácková, Lucie; La??uthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Kunz, Wolfram S.; Zsurka, Gábor; Elger, Christian E.; Bauer, Jürgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; Van Baalen, Andreas; Von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müller-Schlüter, Karen; Kluger, Gerhard; Häusler, Martin/titolo:Polygenic burden in focal and generalized epilepsies/doi:10.1093%2Fbrain%2Fawz292/rivista:Brain (Print)/anno:2019/pagina_da:3473/pagina_a:3481/intervallo_pagine:3473–3481/volume:142
Brain, Oxford : Oxford university press, 2019, vol. 142, no. 11, p. 3473-3481
Brain : a journal of neurology, 142(11), 3473. Oxford University Press

See Hansen and Møller (doi:10.1093/brain/awz318) for a scientific commentary on this article. Using polygenic risk scores from a genome-wide association study in generalized and focal epilepsy, Leu et al. reveal a significantly higher genetic burden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::129fa8e77fb23e3aa43684d166282437
http://hdl.handle.net/11585/792965

Zobrazit plný text záznamu

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Autor: Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Moller, R. S., Krause, R., Nurnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D. C., Depienne, C., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jahn, J., Klein, K. M., Koeleman, B. P. C., Komarek, V., Leguern, E., Lehesjoki, A. -E., Lemke, J. R., Lerche, H., Linnankivi, T., Muhle, H., Pal, D. K., Palotie, A., Rosenow, F., Schubert-Bast, S., Selmer, K., Serratosa, J. M., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., Von Spiczak, S., Weber, Y. G., Zara, F., Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Helbig, K. L., Majithia, A. R., Daly, M. J.

Publikováno v: Genome medicine
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)
Genome Medicine
Lal, D, May, P, Perez-Palma, E, Samocha, K E, Kosmicki, J A, Robinson, E B, Møller, R S, Krause, R, Nürnberg, P, Weckhuysen, S, De Jonghe, P, Guerrini, R, Niestroj, L M, Du, J, Marini, C, Ware, J S, Kurki, M, Gormley, P, Tang, S, Wu, S, Biskup, S, Poduri, A, Neubauer, B A, Koeleman, B P C, Helbig, K L, Weber, Y G, Helbig, I, Majithia, A R, Palotie, A, Daly, M J & EuroEPINOMICS RES Consortium 2020, ' Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders ', Genome Medicine, vol. 12, 28 . https://doi.org/10.1186/s13073-020-00725-6

Background Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly em

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b036557331bdae2c9f0cad2faa39ec2d
https://hdl.handle.net/10067/1686320151162165141

Zobrazit plný text záznamu

Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens A Randomized Clinical Trial

Autor: Nabbout, R., Mistry, A., Zuberi, S., Villeneuve, N., Gil-Nagel, A., Sanchez-Carpintero, R., Stephani, U., Laux, L., Wirrell, E., Knupp, K., Chiron, C., Farfel, G., Striano, P, Galer, B. S., Morrison, G., Lock, M., Agarwal, A., Auvin, S.

IMPORTANCE Fenfluramine treatment may reduce monthly convulsive seizure frequency in patients with Dravet syndrome who have poor seizure control with their current stiripentol-containing antiepileptic drug regimens. OBJECTIVE To determine whether fen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::679e9fb915acedcaa6e051176cd903b2
https://hdl.handle.net/10171/66275

Zobrazit plný text záznamu

De novo variants in neurodevelopmental disorders with epilepsy

Publikováno v: bioRxiv. Cold Spring Harbor Labs Journals (2017).
Nature Genetics, Vol. 50, No 7 (2018) pp. 1048-1053
Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu, D, De Jonghe, P, Guerrini, R, Helbig, K L, Koeleman, B P C, Kosmicki, J A, Linnankivi, T, May, P, Muhle, H, Møller, R S, Neubauer, B A, Palotie, A, Pendziwiat, M, Striano, P, Tang, S, Wu, S, Afawi, Z, De Kovel, C, Dimova, P, Djémié, T, Endziniene, M, Hoffman-Zacharska, D, Jähn, J, Korff, C, Lehesjoki, A E, Marini, C, Müller, S H, Pal, D, Schwarz, N, Selmer, K, Serratosa, J, Stephani, U, Štěrbová, K, Suls, A, Syrbe, S, Talvik, I, Tang, S, Von Spiczak, S, Zara, F, Poduri, A, Weber, Y G, Weckhuysen, S, Sisodiya, S M, Daly, M J & Helbig, I 2018, ' De novo variants in neurodevelopmental disorders with epilepsy ', Nature Genetics, vol. 50, no. 7, pp. 1048-1053 . https://doi.org/10.1038/s41588-018-0143-7
Nature genetics
Nature Genetics

Epilepsy is a frequent feature of neurodevelopmental disorders (NDD) but little is known about genetic differences between NDD with and without epilepsy. We analyzed de novo variants (DNV) in 6753 parent-offspring trios ascertained for different NDD.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2198bc79a3e84e4458a790d2407b6e37
https://doi.org/10.1038/s41588-018-0143-7

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání