Articles

• Open Access

  c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

  Ali S. Shalash, Thomas W. Rösler, Stefanie H. Müller, Mohamed Salama, Günther Deuschl, Ulrich Müller, Thomas Opladen, Britt-Sabina Petersen, Andre Franke, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U. Höglinger

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  Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy

  Jeffrey D. Calhoun, Carlos G. Vanoye, Fernando Kok, Alfred L. George, Jennifer A. Kearney

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  Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

  Carla Marini, Michele Romoli, Elena Parrini, Cinzia Costa, Davide Mei, Francesco Mari, Lucio Parmeggiani, Elena Procopio, Tiziana Metitieri, Elena Cellini, Simona Virdò, Dalila De Vita, Mattia Gentile, Paolo Prontera, Paolo Calabresi, Renzo Guerrini

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  CDKL5 variantsImproving our understanding of a rare neurologic disorder

  Ralph D. Hector, Vera M. Kalscheuer, Friederike Hennig, Helen Leonard, Jenny Downs, Angus Clarke, Tim A. Benke, Judith Armstrong, Mercedes Pineda, Mark E.S. Bailey, Stuart R. Cobb

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  Factors influencing the age at onset in familial frontotemporal lobar dementiaImportant weight of genetics

  Mathieu Barbier, Agnès Camuzat, Marion Houot, Fabienne Clot, Paola Caroppo, Clémence Fournier, Daisy Rinaldi, Florence Pasquier, Didier Hannequin, Jérémie Pariente, Kathy Larcher, The French Clinical and Genetic Research Network on FTD/FTD-ALS*, Predict-PGRN & PrevDemAls Study Groups†, Alexis Brice, Emmanuelle Génin, Audrey Sabbagh, Isabelle Le Ber

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  Na_V channel variants in patients with painful and nonpainful peripheral neuropathy

  Samir Wadhawan, Saumya Pant, Ryan Golhar, Stefan Kirov, John Thompson, Leslie Jacobsen, Irfan Qureshi, Senda Ajroud-Driss, Roy Freeman, David M. Simpson, A. Gordon Smith, Ahmet Hoke, Linda J. Bristow

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  Copy number variation analysis increases the diagnostic yield in muscle diseases

  Salla Välipakka, Marco Savarese, Mridul Johari, Lydia Sagath, Meharji Arumilli, Kirsi Kiiski, Amets Sáenz, Adolfo Lopez de Munain, Ana-Maria Cobo, Katarina Pelin, Bjarne Udd, Peter Hackman

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  Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

  Mohammed Uddin, Marc Woodbury-Smith, Ada Chan, Ledia Brunga, Sylvia Lamoureux, Giovanna Pellecchia, Ryan K.C. Yuen, Muhammad Faheem, Dimitri J. Stavropoulos, James Drake, Cecil D. Hahn, Cynthia Hawkins, Adam Shlien, Christian R. Marshall, Lesley A. Turner, Berge A. Minassian, Stephen W. Scherer, Cyrus Boelman

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  Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

  Rabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, Julia R. Dahlqvist, David Gaist, Nathalie Streichenberger, Maud Beuvin, Martin Krahn, Philippe Petiot, Frédéric Parisot, Fabrice Michel, Edoardo Malfatti, Norma Romero, Robert Yves Carlier, Bruno Eymard, Philippe Labrune, Morten Duno, Thomas Krag, Mathieu Cerino, Marc Bartoli, Gisèle Bonne, John Vissing, Pascal Laforet, François M. Petit

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