Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia
2010; Wiley; Volume: 152A; Issue: 11 Linguagem: Inglês
10.1002/ajmg.a.33692
ISSN1552-4833
AutoresVolker Endris, Karl Hackmann, Teresa Neuhann, Ute Grasshoff, Michael Bonin, Ulrich Haug, Gabriele Hahn, Jens Schallner, Evelin Schröck, Sigrid Tinschert, Gudrun Rappold, Ute Moog,
Tópico(s)Advanced biosensing and bioanalysis techniques
ResumoAmerican Journal of Medical Genetics Part AVolume 152A, Issue 11 p. 2908-2911 Research Letter Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia† Volker Endris, Volker Endris Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany Volker Endris and Karl Hackmann contributed equally to this work.Search for more papers by this authorKarl Hackmann, Karl Hackmann Institute of Clinical Genetics, Technical University Dresden, Dresden, Germany How to Cite this Article: Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schröck E, Tinschert S, Rappold G, Moog U. 2010. Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia. Am J Med Genet Part A 152A:2908–2911.Search for more papers by this authorTeresa M. Neuhann, Teresa M. Neuhann Institute of Clinical Genetics, Technical University Dresden, Dresden, GermanySearch for more papers by this authorUte Grasshoff, Ute Grasshoff Institute of Human Genetics, Medical Genetics Tübingen, Tübingen, GermanySearch for more papers by this authorMichael Bonin, Michael Bonin Institute of Human Genetics, Medical Genetics Tübingen, Tübingen, GermanySearch for more papers by this authorUlrich Haug, Ulrich Haug Center for Child Neurology and Social Pediatrics Maulbronn, Maulbronn, GermanySearch for more papers by this authorGabriele Hahn, Gabriele Hahn Children's Hospital, Medical Faculty Carl Gustav Carus, University of Technology, Dresden, GermanySearch for more papers by this authorJens C. Schallner, Jens C. Schallner Institute of Diagnostic Radiology, Department of Pediatric Radiology, Medical Faculty Carl Gustav Carus, University of Technology, Dresden, GermanySearch for more papers by this authorEvelin Schröck, Evelin Schröck Institute of Clinical Genetics, Technical University Dresden, Dresden, GermanySearch for more papers by this authorSigrid Tinschert, Sigrid Tinschert Institute of Clinical Genetics, Technical University Dresden, Dresden, GermanySearch for more papers by this authorGudrun Rappold, Gudrun Rappold Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, GermanySearch for more papers by this authorUte Moog, Corresponding Author Ute Moog [email protected] Department of Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, GermanyInstitute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.Search for more papers by this author Volker Endris, Volker Endris Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany Volker Endris and Karl Hackmann contributed equally to this work.Search for more papers by this authorKarl Hackmann, Karl Hackmann Institute of Clinical Genetics, Technical University Dresden, Dresden, Germany How to Cite this Article: Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schröck E, Tinschert S, Rappold G, Moog U. 2010. Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia. Am J Med Genet Part A 152A:2908–2911.Search for more papers by this authorTeresa M. Neuhann, Teresa M. Neuhann Institute of Clinical Genetics, Technical University Dresden, Dresden, GermanySearch for more papers by this authorUte Grasshoff, Ute Grasshoff Institute of Human Genetics, Medical Genetics Tübingen, Tübingen, GermanySearch for more papers by this authorMichael Bonin, Michael Bonin Institute of Human Genetics, Medical Genetics Tübingen, Tübingen, GermanySearch for more papers by this authorUlrich Haug, Ulrich Haug Center for Child Neurology and Social Pediatrics Maulbronn, Maulbronn, GermanySearch for more papers by this authorGabriele Hahn, Gabriele Hahn Children's Hospital, Medical Faculty Carl Gustav Carus, University of Technology, Dresden, GermanySearch for more papers by this authorJens C. Schallner, Jens C. Schallner Institute of Diagnostic Radiology, Department of Pediatric Radiology, Medical Faculty Carl Gustav Carus, University of Technology, Dresden, GermanySearch for more papers by this authorEvelin Schröck, Evelin Schröck Institute of Clinical Genetics, Technical University Dresden, Dresden, GermanySearch for more papers by this authorSigrid Tinschert, Sigrid Tinschert Institute of Clinical Genetics, Technical University Dresden, Dresden, GermanySearch for more papers by this authorGudrun Rappold, Gudrun Rappold Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, GermanySearch for more papers by this authorUte Moog, Corresponding Author Ute Moog [email protected] Department of Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, GermanyInstitute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.Search for more papers by this author First published: 26 October 2010 https://doi.org/10.1002/ajmg.a.33692Citations: 44 Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Supporting Information Additional supporting information may be found in the online version of this article. Filename Description AJMG_33692_sm_Suppl-Fig-1.eps873.9 KB Fig. 1 AJMG_33692_sm_Suppl-Fig-1-Legend.eps455.6 KB Fig. 1 Legend AJMG_33692_sm_Suppl-Fig-2.eps1,016.6 KB Fig. 2 AJMG_33692_sm_Suppl-Fig-2-Legend.eps194.4 KB Fig. 2 Legend AJMG_33692_sm_Suppl-Fig-3-Legend.eps188 KB Fig. 3 and Legend AJMG_33692_sm_Suppl-Table1.doc93 KB Table I: 15q13.3 deletions in different cohorts (adapted from Dibbens et al., 2009, Table 4) Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. 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