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Progress in Understanding and Treating SCN2A-Mediated Disorders.
Sanders, Stephan J; Campbell, Arthur J; Cottrell, Jeffrey R; Moller, Rikke S; Wagner, Florence F; Auldridge, Angie L; Bernier, Raphael A; Catterall, William A; Chung, Wendy K; Empfield, James R; George, Alfred L; Hipp, Joerg F; Khwaja, Omar; Kiskinis, Evangelos; Lal, Dennis; Malhotra, Dheeraj; Millichap, John J; Otis, Thomas S; Petrou, Steven; Pitt, Geoffrey; Schust, Leah F; Taylor, Cora M; Tjernagel, Jennifer; Spiro, John E; Bender, Kevin J.
Afiliação
  • Sanders SJ; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address: stephan.sanders@ucsf.edu.
  • Campbell AJ; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.
  • Cottrell JR; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.
  • Moller RS; The Danish Epilepsy Centre, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Campusvej 55, 5230 Odense, Denmark.
  • Wagner FF; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.
  • Auldridge AL; FamilieSCN2a Foundation, P.O. Box 82, East Longmeadow, MA 01028, USA.
  • Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
  • Catterall WA; Department of Pharmacology, University of Washington, Seattle, WA 98195-7280, USA.
  • Chung WK; Simons Foundation, New York, NY 10010, USA; Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
  • Empfield JR; Xenon Pharmaceuticals Inc., 3650 Gilmore Way, Burnaby, BC V5G 4W8, Canada.
  • George AL; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
  • Hipp JF; Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
  • Khwaja O; Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
  • Kiskinis E; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
  • Lal D; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.
  • Malhotra D; Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
  • Millichap JJ; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Epilepsy Center and Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, IL 60611, USA; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chi
  • Otis TS; Sainsbury Wellcome Centre for Neural Circuits and Behaviour, University College London, 25 Howland Street, London W1T 4JG, UK.
  • Petrou S; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC, Australia.
  • Pitt G; Cardiovascular Research Institute, Weill Cornell Medical College, Cornell University, New York, NY 10065, USA.
  • Schust LF; FamilieSCN2a Foundation, P.O. Box 82, East Longmeadow, MA 01028, USA.
  • Taylor CM; Geisinger Health System, 100 North Academy Avenue, Danville, PA 17822, USA.
  • Tjernagel J; Simons Foundation, New York, NY 10010, USA.
  • Spiro JE; Simons Foundation, New York, NY 10010, USA.
  • Bender KJ; Department of Neurology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address: kevin.bender@ucsf.edu.
Trends Neurosci ; 41(7): 442-456, 2018 07.
Article em En | MEDLINE | ID: mdl-29691040
ABSTRACT
Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability. SCN2A encodes the neuronal sodium channel NaV1.2. Functional assays demonstrate strong correlation between genotype and phenotype. This insight can help guide therapeutic decisions and raises the possibility that ligands that selectively enhance or diminish channel function may improve symptoms. The well-defined function of sodium channels makes SCN2A an important test case for investigating the neurobiology of neurodevelopmental disorders more generally. Here, we discuss the progress made, through the concerted efforts of a diverse group of academic and industry scientists as well as policy advocates, in understanding and treating SCN2A-related disorders.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canal de Sódio Disparado por Voltagem NAV1.2 / Transtornos do Neurodesenvolvimento Limite: Animals / Humans Idioma: En Revista: Trends Neurosci Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canal de Sódio Disparado por Voltagem NAV1.2 / Transtornos do Neurodesenvolvimento Limite: Animals / Humans Idioma: En Revista: Trends Neurosci Ano de publicação: 2018 Tipo de documento: Article