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- [1] CDKL5 deficiency disorder in males: Five new variants and review of the literatureEUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2021, 33 : 9 - 20Siri, Barbara论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, Italy IRCCS, Osped Pediat Bambino Gesu, Div Metab, Rome, Italy Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, Italy论文数: 引用数: h-index:机构:Freri, Elena论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Dept Paediat Neurosci, Milan, Italy Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, ItalyDarra, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, AOUI Verona, Child Neuropsychiat, Dept Surg Sci Dent Gynecol & Paediat, Verona, Italy Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, ItalyGana, Simone论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Med Genet Unit, Pavia, Italy Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, ItalyMei, Davide论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp A Meyer Univ Florence, Pediat Neurol Neurogenet & Neurobiol Unit & Labs, Florence, Italy Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, ItalyPorta, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Paediat, AOU Citta Salute & Sci Torino, Turin, Italy Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, ItalyFontana, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, AOUI Verona, Child Neuropsychiat, Dept Surg Sci Dent Gynecol & Paediat, Verona, Italy Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, ItalyGalati, Giulia论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, AOUI Verona, Child Neuropsychiat, Dept Surg Sci Dent Gynecol & Paediat, Verona, Italy Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, ItalySolazzi, Roberta论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Dept Paediat Neurosci, Milan, Italy Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, ItalyNiceta, Marcello论文数: 0 引用数: 0 h-index: 0机构: Genet & Rare Dis Res Div, IRCCS, Osped Pediat Bambino Gesu, Rome, Italy Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, ItalyVeggiotti, Pierangelo论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, L Sacco Dept Biomed & Clin Sci, Milan, Italy V Buzzi Childrens Hosp Milan, Paediat Neurol Unit, Milan, Italy Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, ItalyAlfei, Enrico论文数: 0 引用数: 0 h-index: 0机构: V Buzzi Childrens Hosp Milan, Paediat Neurol Unit, Milan, Italy Univ Torino, Dept Paediat, Osped Infantile Regina Margherita, Turin, Italy
- [2] Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literatureEPILEPSY & BEHAVIOR, 2008, 12 (02) : 326 - 331Pintaudi, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, Italy Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, ItalyBaglietto, Maria Giuseppina论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, Italy Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, ItalyGaggero, Roberto论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, Italy Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, ItalyParodi, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, Italy Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, ItalyPessagno, Alice论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, Italy Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, ItalyMarchi, Margherita论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Ist Auxol Italiano, Dept Genet, Milan, Italy Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, ItalyRusso, Silvia论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Ist Auxol Italiano, Dept Genet, Milan, Italy Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, ItalyVeneselli, Edvige论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, Italy Univ Genoa, G Gaslini Hosp, Dept Child Neuropsychiat, Ist Giannina Gaslini, I-16147 Genoa, Italy
- [3] Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literatureCLINICAL GENETICS, 2009, 76 (04) : 357 - 371Nemos, C.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, FranceLambert, L.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Reg & Univ, Hop Enfants, Serv Med Infantile 1, Vandoeuvre Les Nancy, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, FranceGiuliano, F.论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Archet 2, Serv Genet Med, Nice, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, FranceDoray, B.论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Hautepierre, Cytogenet Serv, Strasbourg, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, FranceRoubertie, A.论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Gui Chauliac, Serv Neuropediat, Montpellier, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, FranceGoldenberg, A.论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Charles Nicolle, Clin Genet Unit, Rouen, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, FranceDelobel, B.论文数: 0 引用数: 0 h-index: 0机构: Hop St Vincent de Paul, Ctr Genet Chromosom, Lille, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, FranceLayet, V.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Hop Flaubert, Genet Unit, Le Havre, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, FranceN'guyen, M. A.论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble, Ctr Langage & Troubles Apprentissages, Dept Pediat, F-38043 Grenoble, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, FranceSaunier, A.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, FranceVerneau, F.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, FranceJonveaux, P.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, FrancePhilippe, C.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, France Ctr Hosp Reg & Univ, EA 4002, Med Genet Lab, Vandoeuvre Les Nancy, France
- [4] CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the LiteratureNEUROPEDIATRICS, 2016, 47 (06) : 361 - 367Lilles, Stella论文数: 0 引用数: 0 h-index: 0机构: Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, Estonia Univ Tartu, Inst Clin Med, Dept Pediat, 6 N Lunini St, EE-51014 Tartu, Estonia Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, EstoniaTalvik, Inga论文数: 0 引用数: 0 h-index: 0机构: Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, Estonia Univ Tartu, Inst Clin Med, Dept Pediat, 6 N Lunini St, EE-51014 Tartu, Estonia Tallinn Childrens Hosp, Dept Neurol & Rehabil, Tallinn, Estonia Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, EstoniaNoormets, Klari论文数: 0 引用数: 0 h-index: 0机构: Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, Estonia Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, EstoniaVaher, Ulvi论文数: 0 引用数: 0 h-index: 0机构: Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, Estonia Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, Estonia论文数: 引用数: h-index:机构:Reimand, Tiia论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Inst Clin Med, Dept Pediat, 6 N Lunini St, EE-51014 Tartu, Estonia Tartu Univ Hosp, Dept Genet, United Labs, Tartu, Estonia Univ Tartu, Inst Biomed & Translat Med, Dept Biomed, Tartu, Estonia Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, EstoniaSander, Valentin论文数: 0 引用数: 0 h-index: 0机构: Tallinn Childrens Hosp, Dept Neurol & Rehabil, Tallinn, Estonia Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, EstoniaIlves, Pilvi论文数: 0 引用数: 0 h-index: 0机构: Tartu Univ Hosp, Dept Radiol, Radiol Clin, Tartu, Estonia Univ Tartu, Dept Radiol, Tartu, Estonia Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, EstoniaTalvik, Tiina论文数: 0 引用数: 0 h-index: 0机构: Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, Estonia Univ Tartu, Inst Clin Med, Dept Pediat, 6 N Lunini St, EE-51014 Tartu, Estonia Tartu Univ Hosp, Comm Clin Eth, Tartu, Estonia Tartu Univ Hosp, Childrens Clin, Dept Neurol & Neurorehabil, 6 N Lunini St, EE-51014 Tartu, Estonia
- [5] Extended duration safety and efficacy of adjunctive ganaxolone treatment in patients with CDKL5 deficiency disorder: 8-month minimum open-label extension follow-upEPILEPSIA, 2022, 63 : 235 - 236Olson, H.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Div Epilepsy & Clin Neurophysiol, Boston, MA USA Harvard Med Sch, Epilepsy Genet Program, Dept Neurol, Boston, MA USA Boston Childrens Hosp, Boston, MA USAMoosa, A.论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin Neurol Inst, Charles Shor Epilepsy Ctr, Cleveland, OH USA Boston Childrens Hosp, Boston, MA USARybak, E.论文数: 0 引用数: 0 h-index: 0机构: Marinus Pharmaceut Inc, Radnor, PA USA Boston Childrens Hosp, Boston, MA USAAimetti, A.论文数: 0 引用数: 0 h-index: 0机构: Marinus Pharmaceut Inc, Radnor, PA USA Boston Childrens Hosp, Boston, MA USAHulihan, J.论文数: 0 引用数: 0 h-index: 0机构: Marinus Pharmaceut Inc, Radnor, PA USA Boston Childrens Hosp, Boston, MA USAPestana-Knight, E.论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin Neurol Inst, Charles Shor Epilepsy Ctr, Cleveland, OH USA Boston Childrens Hosp, Boston, MA USA