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Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.

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Title: Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Authors: Spinelli E; Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Christensen KR; Department of Psychiatry, Yale School of Medicine, Connecticut Mental Health Center, New Haven, CT., Bryant E; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Schneider A; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Rakotomamonjy J; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL., Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA., Giannelli J; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Roeder ER; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Schmidt B; Division of Medical Genetics, University of Virginia, Charlottesville, VA., Wilson WG; Division of Medical Genetics, University of Virginia, Charlottesville, VA., Marco EJ; Department of Pediatrics, University of California, San Francisco, CA.; Research Division, Cortica Healthcare, San Rafael, CA., Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan., Pisano T; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Barba C; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Vetro A; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Brilstra EH; Genetics Department, University Medical Centre Utrecht, Utrecht, The Netherlands., van Jaarsveld RH; Genetics Department, University Medical Centre Utrecht, Utrecht, The Netherlands., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Goldberg-Stern H; Epilepsy Unit and EEG Lab, Schneider Medical Center, Petah Tikv, Israel., Carney PW; Eastern Health Clinical School, Monash University, Melbourne, Victoria, Australia., Andrews PI; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia., El Achkar CM; Epilepsy Unit and EEG Lab, Schneider Medical Center, Petah Tikv, Israel., Berkovic S; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Rodan LH; Department of Neurology and Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., McWalter K; GeneDx, Gaithersburg, MD., Guerrini R; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA., Mandelstam S; Department of Pediatrics and Radiology, University of Melbourne, Melbourne, VIC, Australia.; Department of Medical Imaging, Royal Children's Hospital of Melbourne, Melbourne, VIC, Australia., Laux L; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL., Millichap JJ; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL., Guemez-Gamboa A; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL., Nairn AC; Department of Psychiatry, Yale School of Medicine, Connecticut Mental Health Center, New Haven, CT., Carvill GL; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Corporate Authors: Undiagnosed Diseases Network (UDN)
Source: Annals of neurology [Ann Neurol] 2021 Aug; Vol. 90 (2), pp. 274-284. Date of Electronic Publication: 2021 Jul 13.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
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  Data: Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
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