Articles

• Open Access

  Epilepsy with migrating focal seizuresKCNT1 mutation hotspots and phenotype variability

  Giulia Barcia, Nicole Chemaly, Mathieu Kuchenbuch, Monika Eisermann, Stéphanie Gobin-Limballe, Viorica Ciorna, Alfons Macaya, Laetitia Lambert, Fanny Dubois, Diane Doummar, Thierry Billette de Villemeur, Nathalie Villeneuve, Marie-Anne Barthez, Caroline Nava, Nathalie Boddaert, Anna Kaminska, Nadia Bahi-Buisson, Mathieu Milh, Stéphane Auvin, Jean-Paul Bonnefont, Rima Nabbout

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  Migraine polygenic risk score associates with efficacy of migraine-specific drugs

  Lisette J.A. Kogelman, Ann-Louise Esserlind, Anne Francke Christensen, Swapnil Awasthi, Stephan Ripke, Andres Ingason, Olafur B. Davidsson, Christian Erikstrup, Henrik Hjalgrim, Henrik Ullum, Jes Olesen, Thomas Folkmann Hansen, DBDS Genomic Consortium, The International Headache Genetics Consortium

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  GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis

  Joseph M. Sliepka, Sarah C. McGriff, Linda Z. Rossetti, Peyman Bizargity, Haley Streff, Yi-Shan Lee, Hongzheng Dai, Satyamaanasa Polubothu, Grace Lee, Vicky Ren, Jill V. Hunter, Daniel J. Curry, Fernando Scaglia, Adekunle M. Adesina, Irfan Ali, Veronica Kinsler, Lindsay C. Burrage, Dana Marafi

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  Yield of comparative genomic hybridization microarray in pediatric neurology practice

  Shibalik Misra, Greg Peters, Elizabeth Barnes, Simone Ardern-Holmes, Richard Webster, Christopher Troedson, Shekeeb S. Mohammad, Deepak Gill, Manoj Menezes, Sachin Gupta, Peter Procopis, Jayne Antony, Manju A. Kurian, Russell C. Dale

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  Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

  Laurence Gauquelin, Ferdy K. Cayami, László Sztriha, Grace Yoon, Luan T. Tran, Kether Guerrero, François Hocke, Rosalina M.L. van Spaendonk, Eva L. Fung, Stefano D'Arrigo, Gessica Vasco, Isabelle Thiffault, Dmitriy M. Niyazov, Richard Person, Kara Stuart Lewis, Evangeline Wassmer, Trine Prescott, Penny Fallon, Meriel McEntagart, Julia Rankin, Richard Webster, Heike Philippi, Bart van de Warrenburg, Dagmar Timmann, Abhijit Dixit, Claire Searle, DDD Study,, Nivedita Thakur, Michael C. Kruer, Suvasini Sharma, Adeline Vanderver, Davide Tonduti, Marjo S. van der Knaap, Enrico Bertini, Cyril Goizet, Sébastien Fribourg, Nicole I. Wolf, Geneviève Bernard

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  CNS manifestations in patients with telomere biology disorders

  Sonia Bhala, Ana F. Best, Neelam Giri, Blanche P. Alter, Maryland Pao, Andrea Gropman, Eva H. Baker, Sharon A. Savage

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  Psychometric properties of the Friedreich Ataxia Rating Scale

  Christian Rummey, Louise A. Corben, Martin B. Delatycki, S.H. Subramony, Khalaf Bushara, Christopher M. Gomez, Joseph Chad Hoyle, Grace Yoon, Bernard Ravina, Katherine D. Mathews, George Wilmot, Theresa Zesiewicz, Susan Perlman, Jennifer M. Farmer, David R. Lynch

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  Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

  Stéphane Roche, Camille Dion, Natacha Broucqsault, Camille Laberthonnière, Marie-Cécile Gaillard, Jérôme D. Robin, Arnaud Lagarde, Francesca Puppo, Catherine Vovan, Charlene Chaix, Emmanuelle Salort Campana, Shahram Attarian, Marc Bartoli, Rafaelle Bernard, Karine Nguyen, Frédérique Magdinier

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  Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

  Katrine M. Johannesen, Diana Mitter, Robert Janowski, Christian Roth, Joseph Toulouse, Anne-Lise Poulat, Dorothee M. Ville, Nicolas Chatron, Eva Brilstra, Karin Geleijns, Alfred Peter Born, Scott McLean, Kimberly Nugent, Gareth Baynam, Cathryn Poulton, Lauren Dreyer, Dylan Gration, Solveig Schulz, Andrea Dieckmann, Katherine L. Helbig, Andreas Merkenschlager, Rami Jamra, Anja Finck, Elena Gardella, Helle Hjalgrim, Ghayda Mirzaa, Francesco Brancati, Tatjana Bierhals, Jonas Denecke, Maja Hempel, Johannes R. Lemke, Guido Rubboli, Petra Muschke, Renzo Guerrini, Annalisa Vetro, Dierk Niessing, Gaetan Lesca, Rikke S. Møller

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  Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS

  Maria-Del-Mar Amador, François Muratet, Elisa Teyssou, Guillaume Banneau, Véronique Danel-Brunaud, Etienne Allart, Jean-Christophe Antoine, Jean-Philippe Camdessanché, Mathieu Anheim, Gabrielle Rudolf, Christine Tranchant, Marie-Céline Fleury, Emilien Bernard, Giovanni Stevanin, Stéphanie Millecamps

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  Identification of TYW3/CRYZ and FGD4 as susceptibility genes for amyotrophic lateral sclerosis

  Ling Wei, Yanghua Tian, Yongping Chen, Qianqian Wei, Fangfang Chen, Bei Cao, Ying Wu, Bi Zhao, Xueping Chen, Chengjuan Xie, Chunhua Xi, Xu'en Yu, Juan Wang, Xinyi Lv, Jing Du, Yu Wang, Lu Shen, Xin Wang, Bin Shen, Qihao Guo, Li Guo, Kun Xia, Peng Xie, Xuejun Zhang, Xianbo Zuo, Huifang Shang, Kai Wang

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  Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders

  E. Robert Wassman, Karen S. Ho, Diana Bertrand, Kyle W. Davis, Megan M. Martin, Stephanie Page, Andreas Peiffer, Aparna Prasad, Moises A. Serrano, Hope Twede, Rena Vanzo, Stephen W. Scherer, Mohammed Uddin, Charles H. Hensel

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