Epilepsy and seizures

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
Esther R Berko, Megan T Cho, Christine Eng, Yunru Shao, David A Sweetser, Jessica Waxler, Nathaniel H Robin, Fallon Brewer, Sandra Donkervoort, Payam Mohassel, Carsten G Bönnemann, Martin Bialer, Christine Moore, Lynne A Wolfe, Cynthia J Tifft, Yufeng Shen, Kyle Retterer, Francisca Millan, Wendy K Chung

Journal of Medical Genetics Feb 2017, 54 (2) 84-86; DOI: 10.1136/jmedgenet-2016-103943
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
Cori DeSanto, Kristin D'Aco, Gabriel C Araujo, Nora Shannon, DDD Study, Hilary Vernon, April Rahrig, Kristin G Monaghan, Zhiyv Niu, Patrik Vitazka, Jonathan Dodd, Sha Tang, Linda Manwaring, Arelis Martir-Negron, Rhonda E Schnur, Jane Juusola, Audrey Schroeder, Vivian Pan, Katherine L Helbig, Bethany Friedman, Marwan Shinawi

Journal of Medical Genetics Nov 2015, 52 (11) 754-761; DOI: 10.1136/jmedgenet-2015-103069
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, Rikke S Møller, Milen Velinov, Natalia Dolzhanskaya, Eric Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T Myers, Wim van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien G F de Kovel, Juliette Piard, Berge A Minassian, Marjan M Nezarati, André Pessoa, Aurelia Jacquette, Bridget Maher, Simona Balestrini, Sanjay Sisodiya, Marie Therese Abi Warde, Anne De St Martin, Jamel Chelly, EuroEPINOMICS-RES MAE working group, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H Brilstra, Bobby P C Koeleman

Journal of Medical Genetics Dec 2016, 53 (12) 850-858; DOI: 10.1136/jmedgenet-2016-103909
Chromosome 15q11–13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number
A Hogart, K N Leung, N J Wang, D J Wu, J Driscoll, R O Vallero, N C Schanen, J M LaSalle

Journal of Medical Genetics Feb 2009, 46 (2) 86-93; DOI: 10.1136/jmg.2008.061580
Recent advances in the molecular genetics of epilepsy
Michael S Hildebrand, Hans-Henrik M Dahl, John Anthony Damiano, Richard J H Smith, Ingrid E Scheffer, Samuel F Berkovic

Journal of Medical Genetics May 2013, 50 (5) 271-279; DOI: 10.1136/jmedgenet-2012-101448
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity
K Kanai, S Yoshida, S Hirose, H Oguni, S Kuwabara, S Sawai, A Hiraga, G Fukuma, H Iwasa, T Kojima, S Kaneko

Journal of Medical Genetics Oct 2009, 46 (10) 671-679; DOI: 10.1136/jmg.2008.060897
Novel NHLRC1 mutations and genotype–phenotype correlations in patients with Lafora’s progressive myoclonic epilepsy
S Singh, I Sethi, S Francheschetti, C Riggio, G Avanzini, K Yamakawa, A V Delgado-Escueta, S Ganesh

Journal of Medical Genetics Sep 2006, 43 (9) e48; DOI: 10.1136/jmg.2005.039479
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Yi Shiau Ng, Charlotte L Alston, Daria Diodato, Andrew A Morris, Nicole Ulrick, Stanislav Kmoch, Josef Houštěk, Diego Martinelli, Alireza Haghighi, Mehnaz Atiq, Montserrat Anton Gamero, Elena Garcia-Martinez, Hana Kratochvílová, Saikat Santra, Ruth M Brown, Garry K Brown, Nicola Ragge, Ahmad Monavari, Karen Pysden, Kirstine Ravn, Jillian P Casey, Arif Khan, Anupam Chakrapani, Grace Vassallo, Cas Simons, Karl McKeever, Siobhan O'Sullivan, Anne-Marie Childs, Elsebet Østergaard, Adeline Vanderver, Amy Goldstein, Julie Vogt, Robert W Taylor, Robert McFarland

Journal of Medical Genetics Nov 2016, 53 (11) 768-775; DOI: 10.1136/jmedgenet-2016-103910
l-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model
Jacques Penderis, Jacqui Calvin, Carley Abramson, Cornelis Jakobs, Louise Pettitt, Matthew M Binns, Nanda M Verhoeven, Eamonn O’Driscoll, Simon R Platt, Cathryn S Mellersh

Journal of Medical Genetics May 2007, 44 (5) 334-340; DOI: 10.1136/jmg.2006.042507
GATOR1 complex: the common genetic actor in focal epilepsies
Sara Baldassari, Laura Licchetta, Paolo Tinuper, Francesca Bisulli, Tommaso Pippucci

Journal of Medical Genetics Aug 2016, 53 (8) 503-510; DOI: 10.1136/jmedgenet-2016-103883

Main menu

Epilepsy and seizures

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Epilepsy and seizures

Pages