Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain.

Autor: Kantaputra P; Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand., Daroontum T; Department of Pathology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand., Kitiyamas K; Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand., Piyakhunakorn P; Panare Hospital, Dental Public Health Division, Panare District, Surat Thani 94130, Thailand., Kawasaki K; Division of Oral Anatomy, Faculty of Dentistry & Graduate School of Medical and Dental Sciences, Niigata University, Niigata 950-2181, Japan., Sathienkijkanchai A; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 73170, Thailand., Wasant P; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 73170, Thailand., Vatanavicharn N; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 73170, Thailand., Yasanga T; Medical Science Research Equipment Center, Research Administration Section, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand., Kaewgahya M; Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand., Tongsima S; National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology (BIOTEC), Pathum Thani 12120, Thailand., Cox TC; Departments of Oral & Craniofacial Sciences, School of Dentistry, and Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA., Arold ST; Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia., Ohazama A; Division of Oral Anatomy, Faculty of Dentistry & Graduate School of Medical and Dental Sciences, Niigata University, Niigata 950-2181, Japan., Ngamphiw C; National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology (BIOTEC), Pathum Thani 12120, Thailand.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 08; Vol. 25 (12). Date of Electronic Publication: 2024 Jun 08.

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.

Autor: Cho JH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Hwang S; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Kwak YH; Department of Orthopedic Surgery, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Yum MS; Department of Pediatric Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea., Seo GH; Division of Medical Genetics, 3billion, Inc., Seoul, Republic of Korea., Koh JY; Genome Insight, Inc., San Diego, California, USA., Ju YS; Genome Insight, Inc., San Diego, California, USA., Yoon JH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Kang M; Asan Medical Center, Asan Institute for Life Sciences, Seoul, Republic of Korea., Do HS; Asan Medical Center, Asan Institute for Life Sciences, Seoul, Republic of Korea., Kim S; Asan Medical Center, Asan Institute for Life Sciences, Seoul, Republic of Korea., Kim GH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea., Bae H; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Lee BH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Apr; Vol. 12 (4), pp. e2430.

Transient binocular vision loss and pain insensitivity in Klippel-Feil syndrome: a case report.

Autor: Ullah Z; Department of Neurology, Lady Reading Hospital, Peshawar, Pakistan., Zafar A; Department of Neurology, Lady Reading Hospital, Peshawar, Pakistan., Ishaq H; Department of Neurology, Lady Reading Hospital, Peshawar, Pakistan., Umar Z; Department of Neonatology, Pakistan Institute of Medical Sciences, Islamabad, Pakistan., Khan A; Department of Neurology, Lady Reading Hospital, Peshawar, Pakistan., Badar Y; Department of Neurology, Lady Reading Hospital, Peshawar, Pakistan., Din N; Department of Neurology, Lady Reading Hospital, Peshawar, Pakistan., Khan MF; Department of Neurology, Lady Reading Hospital, Peshawar, Pakistan., McCombe P; Faculty of Medicine, UQ Centre for Clinical Research, Royal Brisbane and Women's Hospital, The University of Queensland, Herston, Brisbane, QLD, 4029, Australia. Pamela.mccombe@uq.edu.au., Khan N; College of Medicine and Health Science, Khalifa University of Science and Technology, 127788, Abu Dhabi, United Arab Emirates. nematullah.khan@ku.ac.ae.; School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, St. Lucia Campus, Brisbane, Australia. nematullah.khan@ku.ac.ae.

Publikováno v: Journal of medical case reports [J Med Case Rep] 2024 Mar 06; Vol. 18 (1), pp. 137. Date of Electronic Publication: 2024 Mar 06.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Autor: Lischka A; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Eggermann K; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Dohrn MF; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA., Laššuthová P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia., Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Dey D; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Beijer D; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA., Šoukalová J; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czechia., Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Mazanec R; Department of Neurology, Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Prague, Czechia., Van Lent J; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium., Tomaselli PJ; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil., Ungelenk M; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany., Debus KY; Center for Molecular Biomedicine Institute for Biophysics, Friedrich-Schiller Universität Jena, 07745 Jena, Germany., Feely SME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA 98105, USA., Gläser D; Center for Human Genetics, Genetikum®, 89231 Neu-Ulm, Germany., Jagadeesh S; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India., Martin M; Davis and Davis Children's Hospital, University of California, Sacramento, CA 95817, USA., Govindaraj GM; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India., Singhi P; Pediatric Neurology and Neurodevelopment, Medanta, The Medicity, Gurgaon, Haryana 122 001, India., Baineni R; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India., Biswal N; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India., Ibarra-Ramírez M; Genetics Department, Hospital Universitario Dr. José Eleuterio González Universidad Autónoma de Nuevo León, 64460 Monterrey, Nuevo León, México., Bonduelle M; Centre for Medical Genetics, Universitair Ziekenhuis Brussel, 1090 Jette, Brussels, Belgium., Gess B; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; Department of Neurology, University Hospital, Evangelisches Klinikum Bethel, University of Bielefeld, 33617 Bielefeld, Germany., Romero Sánchez J; Pediatría, Clínica Premium, 29601 Marbella, Spain., Suthar R; Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160 012, India., Udani V; Department of Child Neurology, PD Hinduja Hospital and Medical Research Centre, Mumbai, Maharashtra 400 016, India., Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India., Unnikrishnan G; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India., Marques W Junior; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil., Mercier S; CHU Nantes, Service de Génétique Médicale, Centre de Référence des Maladies Neuromusculaires AOC, 44000 Nantes, France., Procaccio V; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France., Bris C; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France., Suresh B; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India., Reddy V; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India., Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Bonello-Palot N; INSERM, MMG, U 1251, Marseille, France, Aix Marseille Univ, 13385 Marseille, France., Mochel F; Genetics Department, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, 75013 Paris, France., Dahl G; Pediatric Neurology, Children's Hospital of the King's Daughters in Norfolk, Norfolk, VA 23507, USA., Sasidharan K; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India., Devassikutty FM; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682 041, India., Rodovalho Doriqui MJ; Department of Genetics, Hospital Infantil Doutor Juvêncio Mattos, São Luis, Maranhão 65015-460, Brazil., Müller-Felber W; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, LMU Campus Innenstadt, University of Munich, 80337 Munich, Germany., Vill K; Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, 80337 Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Abele M; Neurologie, Praxis für Neurologie und Schlafmedizin, 53359 Rheinbach, Germany., Stucka R; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany., Siddiqi S; Genomics Group, Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan., Ullah N; Institute for Paramedical Sciences, Khyber Medical University, Peshawar, KPK 25100, Pakistan., Spranger S; MVZ Humangenetik Bremen, Limbach Genetics, 28209 Bremen, Germany., Chiabrando D; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10124 Turin, Italy., Bolgül BS; Department of Pedodontics, Faculty of Dentistry, Dicle University, 21200 Diyarbakir, Turkey., Parman Y; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey., Seeman P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia., Lampert A; Institute of Neurophysiology, Medical Faculty, Uniklinik RWTH Aachen University, 52074 Aachen, Germany., Schulz JB; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Centre Jülich GmbH, and RWTH Aachen University, 52056 Aachen, Germany., Wood JN; Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK., Cox JJ; Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK., Auer-Grumbach M; Department of Orthopedics and Trauma Surgery, Medical University of Vienna, 1090 Vienna, Austria., Timmerman V; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium., de Winter J; Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium., Themistocleous AC; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK., Shy M; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Bennett DL; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK., Baets J; Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium., Hübner CA; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany., Leipold E; Department of Anesthesiology and Intensive Care and CBBM-Center of Brain, Behavior and Metabolism, University of Luebeck, 23562 Luebeck, Germany., Züchner S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Çakar A; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey., Senderek J; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany., Hornemann T; Department of Clinical Chemistry, University Hospital Zurich, University of Zurich, 8006 Zurich, Switzerland., Woods CG; Cambridge Institute for Medical Research, Keith Peters Building, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 4880-4890.

[Progress in the diagnosis and treatment of Congenital insensitivity to pain with anhidrosis].

Autor: Gu J; Medical College, Yangzhou University, Yangzhou, Jiangsu 225001, China. gjx69@163.com., Liu Z, Shi Y, Gu J

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Sep 10; Vol. 41 (9), pp. 1139-1143.