Paediatric neurology: from molecular mechanisms to targeted treatments

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Amy McTague, Richard Appleton, Shivaram Avula, J. Helen Cross, Mary D. King, Thomas S. Jacques, Sanjay Bhate, Anthony Cronin, Andrew Curran, Archana Desurkar, Michael A. Farrell, Elaine Hughes, Rosalind Jefferson, Karine Lascelles, John Livingston, Esther Meyer, Ailsa McLellan, Annapurna Poduri, Ingrid E. Scheffer, Stefan Spinty, Manju A. Kurian, Rachel Kneen, Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain. ,vol. 136, pp. 1578- 1591 ,(2013) , 10.1093/BRAIN/AWT073

Saumya S. Jamuar, Anh-Thu N. Lam, Martin Kircher, Alissa M. D’Gama, Jian Wang, Brenda J. Barry, Xiaochang Zhang, Robert Sean Hill, Jennifer N. Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K. Mehta, Meral Topcu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E. Scheffer, Samuel F. Berkovic, Richard J. Leventer, Yiping Shen, Bai Lin Wu, A. James Barkovich, Mustafa Sahin, Bernard S. Chang, Michael Bamshad, Deborah A. Nickerson, Jay Shendure, Annapurna Poduri, Timothy W. Yu, Christopher A. Walsh, Somatic Mutations in Cerebral Cortical Malformations The New England Journal of Medicine. ,vol. 371, pp. 733- 743 ,(2014) , 10.1056/NEJMOA1314432

Thomas Voit, Haluk Topaloglu, Volker Straub, Francesco Muntoni, Nicolas Deconinck, Giles Campion, Sjef J De Kimpe, Michelle Eagle, Michela Guglieri, Steve Hood, Lia Liefaard, Afrodite Lourbakos, Allison Morgan, Joanna Nakielny, Naashika Quarcoo, Valeria Ricotti, Katie Rolfe, Laurent Servais, Claire Wardell, Rosamund Wilson, Padraig Wright, John E Kraus, Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurology. ,vol. 13, pp. 987- 996 ,(2014) , 10.1016/S1474-4422(14)70195-4

Carol J. Milligan, Melody Li, Elena V. Gazina, Sarah E. Heron, Umesh Nair, Chantel Trager, Christopher A. Reid, Anu Venkat, Donald P. Younkin, Dennis J. Dlugos, Slavé Petrovski, David B. Goldstein, Leanne M. Dibbens, Ingrid E. Scheffer, Samuel F. Berkovic, Steven Petrou, KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Annals of Neurology. ,vol. 75, pp. 581- 590 ,(2014) , 10.1002/ANA.24128