Andres Kanner: shining light on the behavioural aspects of epilepsy

Autor: David R. Holmes

Publikováno v: The Lancet. Neurology. 11(12)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0fd1b86387ebcca9e978873b26fd09e
https://pubmed.ncbi.nlm.nih.gov/23153404

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Autor: Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S. Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amrom, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith L. Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer, Andrew S. Allen, Patrick Cossette, Norman Delanty, Evan E. Eichler, David B. Goldstein, Yujun Han, Erin L. Heinzen, Michael R. Johnson, Anthony G. Marson, Heather C. Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Stephen Petrou, Slavé Petrovski, Elizabeth K. Ruzzo

Publikováno v: The American journal of human genetics
Møller, R S, EuroEPINOMICS RES Consortium, Epilepsy Phenome/Genome Project & Epi4K Consortium 2014, ' De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies ', American Journal of Human Genetics, vol. 95, no. 4, pp. 360-370 . https://doi.org/10.1016/j.ajhg.2014.08.013

Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5621084f9d64cf23e269c01040b9b090
https://pubmed.ncbi.nlm.nih.gov/25262651

Breastfeeding in children of women taking antiepileptic drugs: Cognitive outcomes at age 6 years

Autor: Kimford J, Meador, Gus A, Baker, Nancy, Browning, Morris J, Cohen, Rebecca L, Bromley, Jill, Clayton-Smith, Laura A, Kalayjian, Andres, Kanner, Joyce D, Liporace, Page B, Pennell, Michael, Privitera, David W, Loring, Thad, Zajdowicz

Publikováno v: Meador, K J, Baker, G A, Browning, N, Cohen, M J, Bromley, R L, Clayton-Smith, J, Kalayjian, L A, Kanner, A, Liporace, J D, Pennell, P B, Privitera, M & Loring, D W 2014, ' Breastfeeding in children of women taking antiepileptic drugs: Cognitive outcomes at age 6 years ', JAMA pediatrics, vol. 168, no. 8, pp. 729-736 . https://doi.org/10.1001/jamapediatrics.2014.118
Meador, K J, Baker, G A, Browning, N, Cohen, M J, Bromley, R L, Clayton-Smith, J, Kalayjian, L A, Kanner, A, Liporace, J D, Pennell, P B, Privitera, M & Loring, D W 2014, ' Breastfeeding in children of women taking antiepileptic drugs: Cognitive outcomes at age 6 years ' JAMA pediatrics, vol. 168, no. 8, pp. 729-736 . https://doi.org/10.1001/jamapediatrics.2014.118

IMPORTANCE Breastfeeding is known to have beneficial effects, but concern exists that breastfeeding during maternal antiepileptic drug (AED) therapymay be harmful.We previously noted no adverse effects of breastfeeding associated with AED use on IQ a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a57e136a6c433e7757ee7766426ae45
https://www.research.manchester.ac.uk/portal/en/publications/breastfeeding-in-children-of-women-taking-antiepileptic-drugs-cognitive-outcomes-at-age-6-years(4cc75be3-858d-42ca-bf78-d4b39d1d9978).html

Magnetoencephalographic Patterns of Epileptiform Activity in Children With Regressive Autism Spectrum Disorders

Autor: Jeffrey D. Lewine, Richard Andrews, Michael Chez, Arun-Angelo Patil, Orrin Devinsky, Michael Smith, Andres Kanner, John T. Davis, Michael Funke, Greg Jones, Brian Chong, Sherri Provencal, Michael Weisend, Roland R. Lee, William W. Orrison, Jr, MD

Publikováno v: Pediatrics. 104:405-418

Background.One-third of children diagnosed with autism spectrum disorders (ASDs) are reported to have had normal early development followed by an autistic regression between the ages of 2 and 3 years. This clinical profile partly parallels that seen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6872a25b4f80386eb9b995c8c59063fc
https://doi.org/10.1542/peds.104.3.405