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A Rare Novel CLCN2 Variation and Risk of Gilles de la Tourette Syndrome: Whole-Exome Sequencing in a Multiplex Family and a Follow-Up Study in a Chinese Population

Autor: Aihua Yuan, Zengge Wang, Wen Xu, Qiang Ding, Ying Zhao, Jingjing Han, Jinhua Sun

Publikováno v: Frontiers in Psychiatry, Vol 11 (2020)

Rare inherited variations in multiplex families with Gilles de la Tourette syndrome (GTS) are suggested to play an important role in the genetic etiology of GTS. In order to explore the rare inherited variations with the risk of GTS, whole-exome sequ

Externí odkaz: https://doaj.org/article/479f1ff46eee40a1bc831b57cd10085b

Molecular identification of HSPA8 as an accessory protein of a hyperpolarization-activated chloride channel from rat pulmonary vein cardiomyocytes

Autor: Okamoto, Yosuke, Nagasawa, Yoshinobu, Obara, Yutaro, Ishii, Kuniaki, Takagi, Daichi, Ono, Kyoichi

Publikováno v: In Journal of Biological Chemistry 1 November 2019 294(44):16049-16061

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Expanding the phenotypic spectrum of CLCN2 -related leucoencephalopathy and ataxia.

Autor: Nóbrega PR; Division of Neurology, Department of Clinical Medicine, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil.; Neurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil., R B de Paiva A; Neurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil.; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 02511-000, Brazil.; Department of Neurology, São Rafael Hospital, Rede D'Or São Luiz, Salvador, Bahia 41253-190, Brazil., Souza KS; Neurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil., de Souza JLB; Center of Health Science, State University of Ceara, Fortaleza, Ceara 3101-9795, Brazil., G S B Lima PL; Faculty of Medicine, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil., da Silva DJ; Universidade Federal de Goias, Goiania, Goias 74690-900, Brazil., Pitombeira MS; Hospital Geral de Fortaleza, Fortaleza, Ceara 60150-160, Brazil.; Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil., Borges VK; Hospital de Clínicas, Universidade Federal de Uberlândia, Uberlandia, Minas Gerais 38405-320, Brazil., Dias DA; Division of Radiology, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil., Bispo LM; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 02511-000, Brazil.; University Hospital, EBSERH/Federal University of Sergipe, Aracaju, Sergipe 49060-676, Brazil., Santos CF; Universidade de Fortaleza, Fortaleza, Ceara 60811-905, Brazil.; Hospital Infantil Albert Sabin, Fortaleza, Ceara 60410-794, Brazil., Freua F; Neurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil., Silva PDS; Prevent Senior, Sao Paulo, Sao Paulo 01401-001, Brazil., Alves IS; Prevent Senior, Sao Paulo, Sao Paulo 01401-001, Brazil., Portella LB; Prevent Senior, Sao Paulo, Sao Paulo 01401-001, Brazil., Cunha PR; Paris Brain Institute (ICM), Paris 75013, France., Salomao RPA; Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, Sao Paulo 04021-001, Brazil., Pedroso JL; Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, Sao Paulo 04021-001, Brazil., Miyajima VP; Centre for Clinical Diagnostics, Haematology and Haemotherapy Centre of Ceara (HEMOCE), Fortaleza, Ceara 60416-130, Brazil.; Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool L69 7BE, UK., Miyajima F; Analytical Competence Molecular Epidemiology Lab (ACME), Oswaldo Cruz Foundation (Fiocruz), Fortaleza, Ceara 61773-270, Brazil.; Postgraduate Program in Medical Sciences, Federal University of Ceará (UFC), Fortaleza, Ceara 60020-181, Brazil., Cali E; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Wade C; Queen Square MS Centre, UCL Institute of Neurology, London WC1N 3BG, UK., Sudarsanam A; Birmingham Children's Hospital, Birmingham, Birmingham B4 6NH, UK., O'Driscoll M; West Midlands Regional Clinical Genetics Service, Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK., Hayton T; University Hospital Birmingham, Birmingham B15 2GW, UK., Barsottini OGP; Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, Sao Paulo 04021-001, Brazil., Klebe S; Department of Neurology, University of Würzburg, Essen 97080, Germany., Kok F; Neurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil.; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 02511-000, Brazil., Lucato LT; Neuroradiology Section, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Sao Paulo, Sao Paulo 05403-010, Brazil.; Grupo Fleury, São Paulo, São Paulo 01333-011, Brazil., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; National Hospital for Neurology & Neurosurgery, London WC1N 3BG, UK., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen 45147, Germany., Lynch DS; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; National Hospital for Neurology & Neurosurgery, London WC1N 3BG, UK., Braga-Neto P; Division of Neurology, Department of Clinical Medicine, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil.; Center of Health Science, State University of Ceara, Fortaleza, Ceara 3101-9795, Brazil.; Postgraduate Program in Medical Sciences, Federal University of Ceará (UFC), Fortaleza, Ceara 60020-181, Brazil.

Publikováno v: Brain communications [Brain Commun] 2023 Oct 17; Vol. 6 (1), pp. fcad273. Date of Electronic Publication: 2023 Oct 17 (Print Publication: 2024).