Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/22709
Full metadata record
DC FieldValueLanguage
dc.contributor.authorTsai, Meng-Han-
dc.contributor.authorMuir, Alison M-
dc.contributor.authorWang, Won-Jing-
dc.contributor.authorKang, Yi-Ning-
dc.contributor.authorYang, Kun-Chuan-
dc.contributor.authorChao, Nian-Hsin-
dc.contributor.authorWu, Mei-Feng-
dc.contributor.authorChang, Ying-Chao-
dc.contributor.authorPorter, Brenda E-
dc.contributor.authorJansen, Laura A-
dc.contributor.authorSebire, Guillaume-
dc.contributor.authorDeconinck, Nicolas-
dc.contributor.authorFan, Wen-Lang-
dc.contributor.authorSu, Shih-Chi-
dc.contributor.authorChung, Wen-Hung-
dc.contributor.authorAlmanza Fuerte, Edith P-
dc.contributor.authorMehaffey, Michele G-
dc.contributor.authorNg, Ching-Ching-
dc.contributor.authorChan, Chung-Kin-
dc.contributor.authorLim, Kheng-Seang-
dc.contributor.authorLeventer, Richard J-
dc.contributor.authorLockhart, Paul J-
dc.contributor.authorRiney, Kate-
dc.contributor.authorDamiano, John A-
dc.contributor.authorHildebrand, Michael S-
dc.contributor.authorMirzaa, Ghayda M-
dc.contributor.authorDobyns, William B-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorTsai, Jin-Wu-
dc.contributor.authorMefford, Heather C-
dc.date2020-02-10-
dc.date.accessioned2020-03-02T03:28:03Z-
dc.date.available2020-03-02T03:28:03Z-
dc.date.issued2020-02-10-
dc.identifier.citationNeuron 2020; online first: 10 February-
dc.identifier.urihttp://ahro.austin.org.au/austinjspui/handle/1/22709-
dc.description.abstractLissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant LIS is caused by pathogenic variants in LIS1 (also known as PAFAH1B1), although a significant fraction remains without a known genetic etiology. We now implicate CEP85L as an important cause of posterior predominant LIS, identifying 13 individuals with rare, heterozygous CEP85L variants, including 2 families with autosomal dominant inheritance. We show that CEP85L is a centrosome protein localizing to the pericentriolar material, and knockdown of Cep85l causes a neuronal migration defect in mice. LIS1 also localizes to the centrosome, suggesting that this organelle is key to the mechanism of posterior predominant LIS.-
dc.language.isoeng-
dc.subjectCEP85L-
dc.subjectcentrosome-
dc.subjectlissencephaly-
dc.subjectpachygyria-
dc.subjectposterior predominant-
dc.subjectsubcortical band heterotopia-
dc.titlePathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.-
dc.typeJournal Article-
dc.identifier.journaltitleNeuron-
dc.identifier.affiliationDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USAen
dc.identifier.affiliationDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USAen
dc.identifier.affiliationCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USAen
dc.identifier.affiliationMurdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, Victoria, Australiaen
dc.identifier.affiliationDepartment of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan 833, ROCen
dc.identifier.affiliationSchool of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan 33302, ROCen
dc.identifier.affiliationWhole-Genome Research Core Laboratory of Human Diseases, Chang Gung Memorial Hospital, Keelung, Taiwan, ROCen
dc.identifier.affiliationDepartment of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Linkou, Taipei and Keelung, Taiwan, ROCen
dc.identifier.affiliationBrotman Baty Institute for Precision Medicine, Seattle, WA, USAen
dc.identifier.affiliationInstitute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROCen
dc.identifier.affiliationBrain Research Center, National Yang-Ming University, Taipei 112, Taiwan, ROCen
dc.identifier.affiliationDepartment of Biological Science & Technology, National Chiao Tung University, Hsin-Chu 30010, Taiwan, ROCen
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationNeurosciences Unit, Queensland Children's Hospital and School of Medicine, University of Queensland, Brisbane 4101, QLD, Australiaen
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Health, Melbourne 3052, Victoria, Australiaen
dc.identifier.affiliationDepartments of Paediatrics and Neurology, The Royal Children's Hospital, The University of Melbourne, Melbourne 3052, Victoria, Australiaen
dc.identifier.affiliationInstitute of Biochemistry and Molecular Biology, College of Life Science, National Yang-Ming University, Taipei, Taiwan, ROC-
dc.identifier.affiliationInstitute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC-
dc.identifier.affiliationInstitute of Biochemistry and Molecular Biology, College of Life Science, National Yang-Ming University, Taipei, Taiwan, ROC-
dc.identifier.affiliationDepartment of Pediatrics, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan, ROC-
dc.identifier.affiliationDepartment of Neurology, Stanford University School of Medicine, Palo Alto, CA, USA-
dc.identifier.affiliationDepartment of Neurology, Washington University School of Medicine, St. Louis, MO, USA-
dc.identifier.affiliationDepartment of Pediatrics, McGill University, Montreal, QC, Canada-
dc.identifier.affiliationDepartment of Paediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, HUDERF, Université Libre de Bruxelles (ULB), Brussels, Belgium-
dc.identifier.affiliationGenomic Medicine Core Laboratory, Chang Gung Memorial Hospital, Linkou, Taiwan, ROC-
dc.identifier.affiliationWhole-Genome Research Core Laboratory of Human Diseases, Chang Gung Memorial Hospital, Keelung, Taiwan, ROC-
dc.identifier.affiliationDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA-
dc.identifier.affiliationGenetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia-
dc.identifier.affiliationDivision of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia-
dc.identifier.doi10.1016/j.neuron.2020.01.027-
dc.identifier.orcid0000-0003-4580-841X-
dc.identifier.pubmedid32097630-
Appears in Collections:Journal articles

Files in This Item:
There are no files associated with this item.


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.