Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
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| Title: | Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. |
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| Authors: | Luo X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States of America., Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Zuo Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Hall M; University of Oklahoma Health Sciences Center, Oklahoma City, OK, United States of America., Wierenga KJ; University of Oklahoma Health Sciences Center, Oklahoma City, OK, United States of America., Pastore MT; Nationwide Children's Hospital & The Ohio State University, Columbus, OH, United States of America., Bartholomew D; Nationwide Children's Hospital & The Ohio State University, Columbus, OH, United States of America., Delgado MR; Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center andTexas Scottish Rite Hospital, Dallas, TX, United States of America., Rotenberg J; Houston Specialty Clinic, Houston, TX, United States of America., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America.; Texas Children's Hospital, Houston, TX, United States of America., Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Lotze T; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America.; Texas Children's Hospital, Houston, TX, United States of America., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States of America.; Howard Hughes Medical Institute, Houston TX, United States of America., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States of America. |
| Corporate Authors: | Members of the UDN |
| Source: | PLoS genetics [PLoS Genet] 2017 Jul 24; Vol. 13 (7), pp. e1006905. Date of Electronic Publication: 2017 Jul 24 (Print Publication: 2017). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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