المؤلفون: Ptacek, Louis, Viollet, L, Glusman, G, Murphy, KJ, Newcomb, TM, Reyna, SP, Sweney, M, Nelson, B, Andermann, F, Andermann, E, Acsadi, G

URL الوصول: https://escholarship.org/uc/item/5g44z546

المؤلفون: Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, European Alternating Hemiplegia of Childhood Genetics Consortium, Neri G, Koelewijn S, Kamphorst J, Geilenkirchen M, Pelzer N, Laan L, Haan J, Ferrari M, van den Maagdenberg A, Biobanca e. Registro Clinico per l'Emiplegia Alternante Consortium, Zucca C, Bassi MT, Franchini F, Vavassori R, Giannotta M, Gobbi G, Granata T, Nardocci N, De Grandis E, Veneselli E, Stagnaro M, Vigevano F, European Network for Research on Alternating Hemiplegia for Small, Medium sized Enterpriese Consortium, Oechsler C, Arzimanoglou A, Ninan M, Neville B, Ebinger F, Fons C, Campistol J, Kemlink D, Nevsimalova S, Peeters Scholte C, Casaer P, Sange G, Spiel G, Martinelli Boneschi F, Schyns T, Crawley F, Poncelin D, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein D.B., CASARI , GIORGIO NEVIO

المساهمون: Heinzen, El, Swoboda, Kj, Hitomi, Y, Gurrieri, F, Nicole, S, de Vries, B, Tiziano, Fd, Fontaine, B, Walley, Nm, Heavin, S, Panagiotakaki, E, European Alternating Hemiplegia of Childhood Genetics, Consortium, Neri, G, Koelewijn, S, Kamphorst, J, Geilenkirchen, M, Pelzer, N, Laan, L, Haan, J, Ferrari, M, van den Maagdenberg, A, Biobanca e., Registro Clinico per l'Emiplegia Alternante Consortium, Zucca, C, Bassi, Mt, Franchini, F, Vavassori, R, Giannotta, M, Gobbi, G, Granata, T, Nardocci, N, De Grandis, E, Veneselli, E, Stagnaro, M, Vigevano, F, European Network for Research on Alternating Hemiplegia for, Small, Medium sized Enterpriese, Consortium, Oechsler, C, Arzimanoglou, A, Ninan, M, Neville, B, Ebinger, F, Fons, C, Campistol, J, Kemlink, D, Nevsimalova, S, Peeters Scholte, C, Casaer, P, Casari, GIORGIO NEVIO, Sange, G, Spiel, G, Martinelli Boneschi, F, Schyns, T, Crawley, F, Poncelin, D, Fiori, S, Abiusi, E, Di Pietro, L, Sweney, Mt, Newcomb, Tm, Viollet, L, Huff, C, Jorde, Lb, Reyna, Sp, Murphy, Kj, Shianna, Kv, Gumbs, Ce, Little, L, Silver, K, Ptáček, Lj, Ferrari, Md, Bye, Am, Herkes, Gk, Whitelaw, Cm, Webb, D, Lynch, Bj, Uldall, P, King, Md, Scheffer, Ie, van den Maagdenberg, Am, Sisodiya, Sm, Mikati, Ma, Goldstein, D. B.

المصدر: Nature Genetics, 44(9), 1030
Nature genetics

مصطلحات موضوعية: Nonsynonymous substitution, Genetics, 0303 health sciences, Mutation, Alternating hemiplegia of childhood, Neurological disorder, Biology, Settore MED/03 - GENETICA MEDICA, medicine.disease, medicine.disease_cause, Alternating Hemiplegia, Article, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, ATP1A3, medicine, Etiology, 030217 neurology & neurosurgery, Alternating hemiplegia, Exome sequencing, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5340c120e42b07a60df6c472c9cc43da

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المؤلفون: Margraf RL; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA., Durtschi J; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA., Krock B; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA., Newcomb TM; Pediatric Motor Disorders Research Program, Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Bonkowsky JL; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Voelkerding KV; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA., Bayrak-Toydemir P; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA., Lutz RE; Department of Endocrinology, University of Nebraska Medical Center, Omaha, NE, USA.; Department of Genetics, University of Nebraska Medical Center, Omaha, NE, USA., Swoboda KJ; Pediatric Motor Disorders Research Program, Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

المصدر: Child neurology open [Child Neurol Open] 2018 Jul 23; Vol. 5, pp. 2329048X18789282. Date of Electronic Publication: 2018 Jul 23 (Print Publication: 2018).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: SAGE Publications Inc Country of Publication: United States NLM ID: 101691975 Publication Model: eCollection Cited Medium: Internet ISSN: 2329-048X (Electronic) Linking ISSN: 2329048X NLM ISO Abbreviation: Child Neurol Open Subsets: PubMed not MEDLINE

المؤلفون: Newcomb TM; Department of Neurology (T.M.N.), the University of Utah School of Medicine, Salt Lake City; The Center for Gene Therapy (K.M.F.), Nationwide Children's Hospital, Columbus, OH; and Departments of Pediatrics and Neurology (K.M.F.), Ohio State University, Columbus., Flanigan KM; Department of Neurology (T.M.N.), the University of Utah School of Medicine, Salt Lake City; The Center for Gene Therapy (K.M.F.), Nationwide Children's Hospital, Columbus, OH; and Departments of Pediatrics and Neurology (K.M.F.), Ohio State University, Columbus.

المصدر: Neurology. Genetics [Neurol Genet] 2016 Oct 05; Vol. 2 (5), pp. e108. Date of Electronic Publication: 2016 Oct 05 (Print Publication: 2016).

نوع المنشور: Editorial

بيانات الدورية: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

المؤلفون: Bend EG; From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston., Si Y; From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston., Stevenson DA; From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston., Bayrak-Toydemir P; From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston., Newcomb TM; From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston., Jorgensen EM; From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston. kswoboda@mgh.harvard.edu jorgensen@biology.utah.edu., Swoboda KJ; From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston. kswoboda@mgh.harvard.edu jorgensen@biology.utah.edu.

المصدر: Neurology [Neurology] 2016 Sep 13; Vol. 87 (11), pp. 1131-9. Date of Electronic Publication: 2016 Aug 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Abnormalities, Multiple/*genetics , Caenorhabditis elegans Proteins/*genetics , Channelopathies/*genetics , Sodium Channels/*genetics, Abnormalities, Multiple/physiopathology ; Animals ; Animals, Genetically Modified ; Caenorhabditis elegans ; Caenorhabditis elegans Proteins/metabolism ; Channelopathies/physiopathology ; Female ; Humans ; Infant, Newborn ; Ion Channels ; Membrane Proteins ; Models, Animal ; Phenotype ; Sodium Channels/metabolism ; Syndrome

المؤلفون: Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ

المصدر: PloS one [PLoS One] 2015 Aug 31; Vol. 10 (8), pp. e0137370. Date of Electronic Publication: 2015 Aug 31 (Print Publication: 2015).

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: PubMed not MEDLINE

المؤلفون: Viollet L; Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America., Glusman G; Institute for Systems Biology, Seattle, Washington, United States of America., Murphy KJ; Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America., Newcomb TM; Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America., Reyna SP; Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America., Sweney M; Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America., Nelson B; Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America., Andermann F; Neurogenetics Unit, Montreal Neurologic Institute and Hospital, McGill University, Montreal Quebec, Canada., Andermann E; Neurogenetics Unit, Montreal Neurologic Institute and Hospital, McGill University, Montreal Quebec, Canada., Acsadi G; Departments of Pediatrics and Neurology, Connecticut Children's Medical Center and University of Connecticut School of Medicine, Hartford, CT, United States of America., Barbano RL; Department of Neurology, University of Rochester School of Medicine, Rochester, New York, United States of America., Brown C; Diablo Valley Child Neurology, an affiliate of Stanford Health Alliance, Pleasant Hill, California, United States of America., Brunkow ME; Institute for Systems Biology, Seattle, Washington, United States of America., Chugani HT; Division of Pediatric Neurology, Children's Hospital of Michigan, Wayne State University, Detroit, Michigan, United States of America., Cheyette SR; Department of Child Neurology, Palo Alto Medical Foundation Redwood City Clinic, Redwood City, California, United States of America., Collins A; Department of Pediatric Neurology, Children's Hospital Colorado, University of Colorado Hospital, Aurora, Colorado, United States of America., DeBrosse SD; Departments of Genetics and Genome Sciences, Pediatrics, and Neurology, Case Western Reserve University and University Hospitals Case Medical Center, Cleveland, Ohio, United States of America., Galas D; Pacific Northwest Diabetes Research Institute, Seattle, Washington, United States of America., Friedman J; Departments of Neuroscience and Pediatrics, University of California San Diego, San Diego, California, United States of America., Hood L; Institute for Systems Biology, Seattle, Washington, United States of America., Huff C; Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, United States of America., Jorde LB; Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America., King MD; Departments of Pediatrics and Neurology, University College Dublin School of Medicine and Medical Science, Dublin, Ireland., LaSalle B; Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America., Leventer RJ; Children's Neuroscience Centre, Murdoch Childrens Research Institute, University of Melbourne Department of Paediatrics, The Royal Children's Hospital Melbourne, Parkville Victoria, Australia., Lewelt AJ; Department of Pediatrics, College of Medicine Jacksonville, University of Florida, Jacksonville, Florida, United States of America., Massart MB; Department of Family Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America., Mérida MR 2nd; Stevens Henager College, Salt Lake City, Utah, United States of America., Ptáček LJ; Department of Neurology, University of California San Francisco, San Francisco, California, United States of America., Roach JC; Institute for Systems Biology, Seattle, Washington, United States of America., Rust RS; Center for Medical Ethics and Humanities in Medicine, University Of Virginia UVA health system, Charlottesville, Virginia, United States of America., Renault F; Departement de Neurophysiologie. Hopital Armand Trousseau APHP, Paris, France., Sanger TD; Department of Biomedical Engineering, University of Southern California, Los Angeles, California, United States of America., Sotero de Menezes MA; Swedish Neuroscience Institute, Swedish Medical Center, Seattle, Washington, United States of America., Tennyson R; Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America., Uldall P; Department of Paediatrics and Adolescent Medicine, Juliane Marie Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Zhang Y; Study Design and Biostatistics Center, University of Utah, Salt Lake City, Utah, United States of America., Zupanc M; Department of Neurology, Children's Hospital Orange County, and Department of Pediatrics, University of California, Orange, California, United States of America., Xin W; Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States of America., Silver K; Departments of Pediatrics and Neurology, University of Chicago and Comer Children's Hospital, Chicago, Illinois, United States of America., Swoboda KJ; Pediatric Motor Disorders Research Program, Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.

المصدر: PloS one [PLoS One] 2015 May 21; Vol. 10 (5), pp. e0127045. Date of Electronic Publication: 2015 May 21 (Print Publication: 2015).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Hemiplegia/*genetics , Sodium-Potassium-Exchanging ATPase/*genetics, Child ; Child, Preschool ; Cohort Studies ; DNA Mutational Analysis ; Female ; Genetic Association Studies ; Hemiplegia/physiopathology ; Humans ; Infant ; Male ; Registries

SCR Disease Name: Alternating hemiplegia of childhood

المؤلفون: Sweney MT; Division of Pediatric Neurology, Departments of Pediatrics and Neurology, University of Utah School of Medicine, Salt Lake City, Utah; Department of Neurology, Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City, Utah., Newcomb TM; Department of Neurology, Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City, Utah., Swoboda KJ; Department of Neurology, Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City, Utah. Electronic address: swoboda@genetics.utah.edu.

المصدر: Pediatric neurology [Pediatr Neurol] 2015 Jan; Vol. 52 (1), pp. 56-64. Date of Electronic Publication: 2014 Oct 13.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Phenotype*, Cerebellar Ataxia/*genetics , Dystonic Disorders/*genetics , Foot Deformities, Congenital/*genetics , Hearing Loss, Sensorineural/*genetics , Hemiplegia/*genetics , Optic Atrophy/*genetics , Reflex, Abnormal/*genetics , Sodium-Potassium-Exchanging ATPase/*genetics, Animals ; Cerebellar Ataxia/diagnosis ; Cerebellar Ataxia/physiopathology ; Cerebellar Ataxia/therapy ; Child ; Diagnosis, Differential ; Dystonic Disorders/diagnosis ; Dystonic Disorders/physiopathology ; Dystonic Disorders/therapy ; Foot Deformities, Congenital/diagnosis ; Foot Deformities, Congenital/physiopathology ; Foot Deformities, Congenital/therapy ; Hearing Loss, Sensorineural/diagnosis ; Hearing Loss, Sensorineural/physiopathology ; Hearing Loss, Sensorineural/therapy ; Hemiplegia/diagnosis ; Hemiplegia/physiopathology ; Hemiplegia/therapy ; Humans ; Optic Atrophy/diagnosis ; Optic Atrophy/physiopathology ; Optic Atrophy/therapy

SCR Disease Name: Alternating hemiplegia of childhood; CAPOS syndrome; Dystonia 12