Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

• Tripathy R Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
• Leca I Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
• van Dijk T Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
• Weiss J Amsterdam UMC, Vrije Universiteit Amsterdam, Clinical Genetics, De Boelelaan 1117, Amsterdam, the Netherlands.
• van Bon BW Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
• Sergaki MC Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
• Gstrein T Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
• Breuss M Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
• Tian G Department of Biochemistry & Molecular Pharmacology, NYU Langone Medical Center, New York, NY 10016, USA.
• Bahi-Buisson N Université Paris Descartes, Institut Cochin Hôpital Cochin, 75014 Paris, France.
• Paciorkowski AR Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA.
• Pagnamenta AT NIHR Oxford Biomedical Research Centre, Oxford, UK, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
• Wenninger-Weinzierl A Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
• Martinez-Reza MF Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
• Landler L Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
• Lise S NIHR Oxford Biomedical Research Centre, Oxford, UK, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
• Taylor JC NIHR Oxford Biomedical Research Centre, Oxford, UK, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
• Terrone G Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.
• Vitiello G Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.
• Del Giudice E Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.
• Brunetti-Pierri N Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy.
• D'Amico A Department of Advanced Medical Sciences, University of Naples Federico II, 80131 Naples, Italy.
• Reymond A Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
• Voisin N Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
• Bernstein JA Stanford School of Medicine, Stanford, CA 94305, USA.
• Farrelly E Stanford Children's Health, Palo Alto, CA 94304, USA.
• Kini U Department of Clinical Genetics, Oxford Regional Genetics Service, Churchill Hospital, Oxford OX3 7LJ, UK.
• Leonard TA Center for Medical Biochemistry, Medical University of Vienna, Max F. Perutz Laboratories, Vienna Biocenter (VBC), Campus Vienna Biocenter 5, 1030 Vienna, Austria.
• Valence S Centre de référence des Malformations et Maladies Congénitales du Cervelet et Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012 Paris, France.
• Burglen L Centre de référence des Malformations et Maladies Congénitales du Cervelet et Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012 Paris, France.
• Armstrong L Provincial Medical Genetics Programme, BCWH and Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
• Hiatt SM HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
• Cooper GM HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
• Aldinger KA Seattle Children's Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA.
• Dobyns WB Seattle Children's Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA.
• Mirzaa G Seattle Children's Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA.
• Pierson TM Departments of Pediatrics and Neurology & the Board of Governors Regenerative Medicine, Institute Cedars Sinai Medical Center, Los Angeles, CA 90048, USA.
• Baas F Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
• Chelly J Service de Diagnostic Génétique, Hôpital Civil de Strasbourg, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France.
• Cowan NJ Department of Biochemistry & Molecular Pharmacology, NYU Langone Medical Center, New York, NY 10016, USA.
• Keays DA Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria. Electronic address: keays@imp.ac.at.

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MAST1

cerebellar hypoplasia

corpus callosum

microdeletion

microtubules

Agenesis of Corpus Callosum

Animals

Animals, Newborn

Apoptosis

Brain

Cells, Cultured

Cerebellum

Child

Developmental Disabilities

Disease Models, Animal

Embryo, Mammalian

Female

Gene Expression Regulation, Developmental

Humans

Male

Malformations of Cortical Development

Mice

Mice, Inbred C57BL

Mice, Knockout

Microtubule-Associated Proteins

Mutation

Nerve Tissue Proteins

Nervous System Malformations

PAX6 Transcription Factor