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Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy

Papa, Filomena T.a; Mancardi, Maria M.c; Frullanti, Elisaa; Fallerini, Chiaraa; Della Chiara, Veronicaa; Zalba-Jadraque, Lauraf; Baldassarri, Margheritaa,b; Gamucci, Alessandrad; Mari, Francescaa,b; Veneselli, Edvigee; Renieri, Alessandraa,b

doi: 10.1097/MCD.0000000000000205
SHORT CASE REPORTS
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aMedical Genetics

bMedical Genetics, Azienda Ospedaliera Universitaria Senese, Siena

cChild Neuropsychiatry Unit, Department of Clinical and Surgical Neuroscience and Rehabilitation, Giannina Gaslini Institute

dChild Neuropsychiatry Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children’s Sciences, Giannina Gaslini Institute

eChild Neuropsychiatry Unit, Istituto Giannina Gaslini, DINOGMI, University of Genoa, Genoa, Italy

fUniversity of Barcelona, Barcelona, Spain

Correspondence to Alessandra Renieri, MD, PhD, Medical Genetics University of Siena, Policlinico S Maria alle Scotte Viale Bracci, 2-53100 Siena, Italy Tel: +39 057 723 3303; fax: +39 057 723 3325; e-mail: alessandra.renieri@unisi.it

Received October 5, 2017

Accepted November 10, 2017

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