Neurology

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy
Simon Edvardson, Jae Kyo Yi, Chaim Jalas, Ruijuan Xu, Bryn D Webb, Justin Snider, Anastasia Fedick, Elisheva Kleinman, Nathan R Treff, Cungui Mao, Orly Elpeleg

Journal of Medical Genetics Jun 2016, 53 (6) 389-396; DOI: 10.1136/jmedgenet-2015-103457
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN
Yonatan Perez, Rotem Kadir, Michael Volodarsky, Iris Noyman, Hagit Flusser, Zamir Shorer, Libe Gradstein, Ramon Y Birnbaum, Ohad S Birk

Journal of Medical Genetics Jun 2016, 53 (6) 397-402; DOI: 10.1136/jmedgenet-2015-103352
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, Christopher Boustred, Jane A Hurst, Lucy Jenkins, Manju A Kurian, Richard H Scott

Journal of Medical Genetics May 2016, 53 (5) 310-317; DOI: 10.1136/jmedgenet-2015-103263
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2
Patrizia Calandra, Isabella Cascino, Richard J L F Lemmers, Giuliana Galluzzi, Emanuela Teveroni, Mauro Monforte, Giorgio Tasca, Enzo Ricci, Fabiola Moretti, Silvère M van der Maarel, Giancarlo Deidda

Journal of Medical Genetics May 2016, 53 (5) 348-355; DOI: 10.1136/jmedgenet-2015-103436
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects
Chiao Xin Lim, Michael G Ricos, Leanne M Dibbens, Sarah E Heron

Journal of Medical Genetics Apr 2016, 53 (4) 217-225; DOI: 10.1136/jmedgenet-2015-103508
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome
Karen S Ho, Sarah T South, Amanda Lortz, Charles H Hensel, Mallory R Sdano, Rena J Vanzo, Megan M Martin, Andreas Peiffer, Christophe G Lambert, Amy Calhoun, John C Carey, Agatino Battaglia

Journal of Medical Genetics Apr 2016, 53 (4) 256-263; DOI: 10.1136/jmedgenet-2015-103626
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy
Johannes Koch, René G Feichtinger, Peter Freisinger, Mechthild Pies, Falk Schrödl, Arcangela Iuso, Wolfgang Sperl, Johannes A Mayr, Holger Prokisch, Tobias B Haack

Journal of Medical Genetics Apr 2016, 53 (4) 270-278; DOI: 10.1136/jmedgenet-2015-103500
The importance of genetic diagnosis for Duchenne muscular dystrophy
Annemieke Aartsma-Rus, Ieke B Ginjaar, Kate Bushby

Journal of Medical Genetics Mar 2016, 53 (3) 145-151; DOI: 10.1136/jmedgenet-2015-103387
Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation
Mario D Cordero, Elísabet Alcocer-Gómez, Fabiola Marín-Aguilar, Tatyana Rybkina, David Cotán, Antonio Pérez-Pulido, José Miguel Alvarez-Suarez, Maurizio Battino, José Antonio Sánchez-Alcazar, Angel M Carrión, Ognjen Culic, José M Navarro-Pando, Pedro Bullón

Journal of Medical Genetics Feb 2016, 53 (2) 113-122; DOI: 10.1136/jmedgenet-2015-103392
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines
Erin Conboy, Radhika Dhamija, Margaret Wang, Jing Xie, P James Dyck, Alina G Bridges, Robert J Spinner, Amy C Clayton, Robert E Watson, Ludwine Messiaen, Dusica Babovic-Vuksanovic

Journal of Medical Genetics Feb 2016, 53 (2) 123-126; DOI: 10.1136/jmedgenet-2015-103177

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