IRS,The Epilepsyhospital Filadelfia, Epilepsy Genetics and Personalized Medicine

Fingerprint Dive into the research topics where IRS,The Epilepsyhospital Filadelfia, Epilepsy Genetics and Personalized Medicine is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.

Genetic Heterogeneity Medicine & Life Sciences
Rolandic Epilepsy Medicine & Life Sciences
Case-Control Studies Medicine & Life Sciences
Medicine Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genetic Counseling Medicine & Life Sciences
Statistical Models Medicine & Life Sciences
Meta-Analysis Medicine & Life Sciences

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Research Output 2019 2019

  • 3 Journal article
  • 1 Ph.D. thesis
  • 1 Comment/debate

Erratum: Correction: The landscape of epilepsy-related GATOR1 variants (Genetics in medicine : official journal of the American College of Medical Genetics (2019) 21 2 (398-408))

Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S. & 68 others, Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E. H., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M. L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A. S., Jennesson, M., Sattar, S., Marchal, C., NordliJr, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A. S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., 1. Aug 2019, In : Genetics in medicine : official journal of the American College of Medical Genetics. 21, 8, p. 1896 1 p.

Research output: Contribution to journalComment/debateResearchpeer-review

Open Access
Medicine
9 Downloads (Pure)

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Jønch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., Puechberty, J., Campbell, C., Sanlaville, D., Lefroy, H., Richetin, S., Pain, A., Geneviève, D., Kini, U., Le Caignec, C., Lespinasse, J., Skytte, A. B., Isidor, B., Zweier, C., Caberg, J. H. & 8 others, Delrue, M. A., Møller, R. S., Bojesen, A., Hjalgrim, H., Brasch-Andersen, C., Lemyre, E., Ousager, L. B. & Jacquemont, S., Oct 2019, In : Journal of Medical Genetics. 56, 10, p. 701-710

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Case-Control Studies
Genetic Counseling
Statistical Models
Meta-Analysis
Population

Genetic heterogeneity in infantile spasms

EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen, Oct 2019, In : Epilepsy Research. 156, 5 p., 106181.

Research output: Contribution to journalJournal articleResearchpeer-review

Genetic Heterogeneity
Incidence

Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations

Lesca, G., Møller, R. S., Rudolf, G., Hirsch, E., Hjalgrim, H. & Szepetowski, P., Jun 2019, In : Epileptic disorders : international epilepsy journal with videotape. 21, S1, p. 41-47

Research output: Contribution to journalJournal articleResearchpeer-review

Rolandic Epilepsy
Mutation
Landau-Kleffner Syndrome
Cytogenetics
Language