Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Autor: Patrick May, Simon Girard, Merle Harrer, Dheeraj R Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance-Touchette, Caroline Meloche, Micheline Gravel, Cristina E Niturad, Julia Knaus, Carolien De Kovel, Mohamad Toliat, Anne Polvi, Michele Iacomino, Rosa Guerrero-López, Stéphanie Baulac, Carla Marini, Holger Thiele, Janine Altmüller, Kamel Jabbari, Ann-Kathrin Ruppert, Wiktor Jurkowski, Dennis Lal, Raffaella Rusconi, Sandrine Cestèle, Benedetta Terragni, Ian D Coombs, Christopher A Reid, Pasquale Striano, Hande Caglayan, Auli Siren, Kate Everett, Rikke S Møller, Helle Hjalgrim, Hiltrud Muhle, Ingo Helbig, Wolfram S Kunz, Yvonne G Weber, Sarah Weckhuysen, Peter De Jonghe, Sanjay M Sisodiya, Rima Nabbout, Silvana Franceschetti, Antonietta Coppola, Maria S Vari, Dorothée Kasteleijn-Nolst Trenité, Betul Baykan, Ugur Ozbek, Nerses Bebek, Karl M Klein, Felix Rosenow, Dang K Nguyen, François Dubeau, Lionel Carmant, Anne Lortie, Richard Desbiens, Jean-François Clément, Cécile Cieuta-Walti, Graeme J Sills, Pauls Auce, Ben Francis, Michael R Johnson, Anthony G Marson, Bianca Berghuis, Josemir W Sander, Andreja Avbersek, Mark McCormack, Gianpiero L Cavalleri, Norman Delanty, Chantal Depondt, Martin Krenn, Fritz Zimprich, Sarah Peter, Marina Nikanorova, Robert Kraaij, Jeroen van Rooij, Rudi Balling, M Arfan Ikram, André G Uitterlinden, Giuliano Avanzini, Stephanie Schorge, Steven Petrou, Massimo Mantegazza, Thomas Sander, Eric LeGuern, Jose M Serratosa, Bobby P C Koeleman, Aarno Palotie, Anna-Elina Lehesjoki, Michael Nothnagel, Peter Nürnberg, Snezana Maljevic, Federico Zara, Patrick Cossette, Roland Krause, Holger Lerche, Edoardo Ferlazzo, Carlo di Bonaventura, Angela La Neve, Paolo Tinuper, Francesca Bisulli, Aglaia Vignoli, Giuseppe Capovilla, Giovanni Crichiutti, Antonio Gambardella, Vincenzo Belcastro, Amedeo Bianchi, Destina Yalçın, Gulsen Dizdarer, Kezban Arslan, Zuhal Yapıcı, Demet Kuşcu, Costin Leu, Kristin Heggeli, Joseph Willis, Sarah R Langley, Andrea Jorgensen, Prashant Srivastava, Sarah Rau, Christian Hengsbach, Anja C.M. Sonsma

Publikováno v: The Lancet Neurology
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Lancet Neurology, 17(8), 699-708. Lancet Publishing Group
EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium 2018, ' Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies : an exome-based case-control study ', Lancet Neurology, vol. 17, no. 8, pp. 699-708 . https://doi.org/10.1016/S1474-4422(18)30215-1
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
The lancet neurology
LANCET NEUROLOGY
The Lancet Neurology, 17(8), 699. Lancet Publishing Group

BACKGROUND: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2a7ebc4483d5ba5e9aac0991ff234c
https://hal.archives-ouvertes.fr/hal-02352036

Effect of nutritional support in children with spastic quadriplegia

Autor: Hamide Ataman, Nedret Uran, Aycan Ünalp, Aliye Conku, Gulsen Dizdarer, Figen Özgönül, Ozlem Bekem Soylu, Aysel Öztürk

Publikováno v: Pediatric neurology. 39(5)

Malnutrition is a common problem in patients with cerebral palsy. We evaluated the effect of nutritional support on clinical findings in children with spastic quadriplegia. Feeding history, numbers of lower respiratory tract infections, and gastroint

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc77c3871cd68f3d85e325b54549a398
https://pubmed.ncbi.nlm.nih.gov/18940556