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mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Calhoun, Jeffrey D; Aziz, Miriam C; Happ, Hannah C; Gunti, Jonathan; Gleason, Colleen; Mohamed, Najma; Zeng, Kristy; Hiller, Meredith; Bryant, Emily; Mithal, Divakar S; Bellinski, Irena; Kinsley, Lisa; Grimmel, Mona; Schwaibold, Eva M C; Smith-Hicks, Constance; Chassevent, Anna; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Striano, Pasquale; Capra, Valeria; Bird, Lynne M; Ben-Sahra, Issam; Ekhilevich, Nina; Hershkovitz, Tova; Weiss, Karin; Millichap, John; Gerard, Elizabeth E; Carvill, Gemma L.
Afiliación
  • Calhoun JD; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
  • Aziz MC; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
  • Happ HC; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
  • Gunti J; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
  • Gleason C; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
  • Mohamed N; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
  • Zeng K; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
  • Hiller M; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
  • Bryant E; Ann and Robert H. Lurie Children's Hospital of Chicago Epilepsy Center and Division of Neurology, Chicago, IL 60610, USA.
  • Mithal DS; Ann and Robert H. Lurie Children's Hospital of Chicago Epilepsy Center and Division of Neurology, Chicago, IL 60610, USA.
  • Bellinski I; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
  • Kinsley L; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
  • Grimmel M; Ann & Robert H. Lurie Children's Hospital of Chicago, Department of Pediatrics, Epilepsy Center and Division of Neurology, Chicago, IL 60610, USA.
  • Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg 69120, Germany.
  • Smith-Hicks C; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
  • Chassevent A; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Scala M; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
  • Accogli A; Giannina Gaslini Children's Hospital, Genova, GE 16147, Italy.
  • Torella A; Medical Genetic Unit, IRCCS Istituto G.Gaslini, 16147 Genoa, Italy.
  • Striano P; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, QC, H4A 3J1, Canada.
  • Capra V; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Bird LM; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, QC, H4A 3J1, Canada.
  • Ben-Sahra I; Giannina Gaslini Children's Hospital, Genova, GE 16147, Italy.
  • Ekhilevich N; Medical Genetic Unit, IRCCS Istituto G.Gaslini, 16147 Genoa, Italy.
  • Hershkovitz T; Giannina Gaslini Children's Hospital, Genova, GE 16147, Italy.
  • Weiss K; Medical Genetic Unit, IRCCS Istituto G.Gaslini, 16147 Genoa, Italy.
  • Millichap J; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Gerard EE; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, NA 80078, Italy.
  • Carvill GL; San Diego Department of Pediatrics and Rady Children's Hospital Division of Dysmorphology/Genetics, University of California, San Diego, CA 92161, USA.
Brain ; 145(6): 1939-1948, 2022 06 30.
Article en En | MEDLINE | ID: mdl-35773235
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsias Parciales / Epilepsia / Megalencefalia Límite: Humans Idioma: En Revista: Brain Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsias Parciales / Epilepsia / Megalencefalia Límite: Humans Idioma: En Revista: Brain Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos