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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

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第一作者: Lemke, Johannes R.
作者单位: Univ Strasbourg, Dept Med Translat & Neurogenet, IGBMC, CNRS UMR 7104,INSERM U964, Illkirch [1] Ctr Hosp Algarve, Faro, Portugal [2] Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2610 Antwerp, Belgium [3] Childrens Hosp & Clin Minnesota, Dept Med Genet, Minneapolis, MN USA [4] Tech Univ Darmstadt, Dept Neurophysiol & Neurosensory Syst, Darmstadt, Germany [5] Univ Cologne, Cologne Ctr Genom CCG, Cologne, Germany [6] Univ Med Ctr Munster, Dept Neuropediat, Munster, Germany [7] Univ Heidelberg Hosp, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Ctr Paediat & [8] Hop Enfants La Timone, Dept Genet Med, Marseille, France [9] Childrens Hosp Pittsburgh, Div Child Neurol, Pittsburgh, PA 15213 USA [10] Oslo Univ Hosp, Dept Clin Neurosci Children, Women & Childrens Div, Oslo, Norway [11] Ambry Genet, Div Clin Genom, Aliso Viejo, CA USA [12] Danish Epilepsy Ctr, Dianalund, Denmark [13] CHU Hop Nord, Genet Clin, Chromosom & Mol, St Pirest En Jarez, France [14] Translat Genom Res Inst TGen, Ctr Rare Childhood Disorders, Phoenix, AZ USA [15] Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA [16] CeGaT GmbH, Tubingen, Germany [17] Univ Pittsburgh, Sch Med, Childrens Hosp Pittsburgh, Div Med Genet,Dept Pediat, Pittsburgh, PA [18] Univ Leipzig Hosp & Clin, Inst Human Genet, Leipzig, Germany [19] Univ Montreal, Ctr Hosp Univ St Justine, Ctr Rech, Montreal, PQ H3C 3J7, Canada [20] Vrije Univ Brussel, Univ Hosp, Dept Paediat Neurol, Brussels, Belgium [21] Klinikum Stuttgart, Inst Clin Genet, Stuttgart, Germany [22] Hop La Pitie Salpetriere, AP HP, INSERM, Paris, France [23] Ctr Hosp Univ Clermont Ferrand, Serv Genet Med, Clermont Ferrand, France [24] Swiss Epilepsy Ctr, Zurich, Switzerland [25] Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RA Leiden, Netherlands [26] Univ Med Ctr Giessen & Marburg, Dept Neuropediat, Giessen, Germany [27] Hop Enfants La Timone, APHM, Dept Genet Med, Marseille, France [28] Carilion Clin Childrens Hosp, Clin Genet Sect, Roanoke, VA USA [29] Inselspital Bern, Univ Childrens Hosp, Div Human Genet, Bern, Switzerland [30] Univ Paris 06, Hop La Pitie Salpetriere, AP HP,U1127,CNRS,UMR 7225, Univ Paris 04,,Inst Cerveau & [31] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway [32] UMCU, Dept Med Genet, Utrecht, Netherlands [33] Aix Marseille Univ, Hop Enfants La Timone, INSERM, GMGF UMR S 910, Marseille, France [34]
发布时间 2017-04-06
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Neurology: Official Journal of the American Academy of Neurology

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