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Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Spinelli, Egidio; Christensen, Kyle R; Bryant, Emily; Schneider, Amy; Rakotomamonjy, Jennifer; Muir, Alison M; Giannelli, Jessica; Littlejohn, Rebecca O; Roeder, Elizabeth R; Schmidt, Berkley; Wilson, William G; Marco, Elysa J; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen; Vetro, Annalisa; Brilstra, Eva H; van Jaarsveld, Richard H; Matsumoto, Naomichi; Goldberg-Stern, Hadassa; Carney, Patrick W; Andrews, P Ian; El Achkar, Christelle M; Berkovic, Sam; Rodan, Lance H; McWalter, Kirsty; Guerrini, Renzo; Scheffer, Ingrid E; Mefford, Heather C; Mandelstam, Simone; Laux, Linda; Millichap, John J; Guemez-Gamboa, Alicia; Nairn, Angus C; Carvill, Gemma L.
Affiliation
  • 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.
  • Schneider A; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
  • Rakotomamonjy J; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia.
  • Muir AM; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL.
  • Giannelli J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA.
  • Littlejohn RO; Epilepsy Center and Division of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
  • Roeder ER; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Schmidt B; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.
  • Wilson WG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Marco EJ; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.
  • Iwama K; Division of Medical Genetics, University of Virginia, Charlottesville, VA.
  • Kumada S; Division of Medical Genetics, University of Virginia, Charlottesville, VA.
  • Pisano T; Department of Pediatrics, University of California, San Francisco, CA.
  • Barba C; Research Division, Cortica Healthcare, San Rafael, CA.
  • Vetro A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Brilstra EH; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • van Jaarsveld RH; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
  • Matsumoto N; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
  • Goldberg-Stern H; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
  • Carney PW; Genetics Department, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Andrews PI; Genetics Department, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • El Achkar CM; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Berkovic S; Epilepsy Unit and EEG Lab, Schneider Medical Center, Petah Tikv, Israel.
  • Rodan LH; Eastern Health Clinical School, Monash University, Melbourne, Victoria, Australia.
  • McWalter K; Epilepsy Unit and EEG Lab, Schneider Medical Center, Petah Tikv, Israel.
  • Guerrini R; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia.
  • Scheffer IE; Department of Neurology and Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
  • Mandelstam S; GeneDx, Gaithersburg, MD.
  • Laux L; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
  • Millichap JJ; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia.
  • Guemez-Gamboa A; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA.
  • Nairn AC; Department of Pediatrics and Radiology, University of Melbourne, Melbourne, VIC, Australia.
  • Carvill GL; Department of Medical Imaging, Royal Children's Hospital of Melbourne, Melbourne, VIC, Australia.
Ann Neurol ; 90(2): 274-284, 2021 08.
Article in En | MEDLINE | ID: mdl-34185323
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Protein Serine-Threonine Kinases / Epilepsy / Microtubule-Associated Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Animals / Child / Female / Humans / Male Language: En Journal: Ann Neurol Year: 2021 Document type: Article Affiliation country: Canadá Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Protein Serine-Threonine Kinases / Epilepsy / Microtubule-Associated Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Animals / Child / Female / Humans / Male Language: En Journal: Ann Neurol Year: 2021 Document type: Article Affiliation country: Canadá Country of publication: Estados Unidos