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المؤلفون: Carmen B. Schäfer, Zhenyu Gao, Mark Nellist, de Brito van Velze M, van Woerden Gm, Linda M. C. Koene, Martina Proietti Onori, Ype Elgersma

مصطلحات موضوعية: Mutation, biology, Cortical malformations, medicine.disease, Somatosensory system, medicine.disease_cause, Phenotype, Epilepsy, medicine, biology.protein, Generalized epilepsy, Neuroscience, PI3K/AKT/mTOR pathway, RHEB

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::be8fbf565f9d47d4cca947158b943be9
https://doi.org/10.1101/2020.07.08.189399

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المؤلفون: Proietti Onori M; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands., Koene LMC; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands., Schäfer CB; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands., Nellist M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Zuid Holland, the Netherlands., de Brito van Velze M; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands., Gao Z; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands., Elgersma Y; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Zuid Holland, the Netherlands., van Woerden GM; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Zuid Holland, the Netherlands.

المصدر: PLoS biology [PLoS Biol] 2021 May 26; Vol. 19 (5), pp. e3001279. Date of Electronic Publication: 2021 May 26 (Print Publication: 2021).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101183755 Publication Model: eCollection Cited Medium: Internet ISSN: 1545-7885 (Electronic) Linking ISSN: 15449173 NLM ISO Abbreviation: PLoS Biol Subsets: MEDLINE

مواضيع طبية MeSH: Ras Homolog Enriched in Brain Protein/*metabolism , Seizures/*metabolism , TOR Serine-Threonine Kinases/*metabolism, Animals ; Axons/metabolism ; Brain/metabolism ; Disease Models, Animal ; Epilepsy/metabolism ; Epilepsy/physiopathology ; Mice ; Mice, Inbred C57BL ; Neurons/metabolism ; Seizures/physiopathology ; Signal Transduction ; Somatosensory Cortex/metabolism