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- [21] Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerationsEPILEPTIC DISORDERS, 2017, 19 (02) : 226 - 230论文数: 引用数: h-index:机构:Uldall, Peter论文数: 0 引用数: 0 h-index: 0机构: Epilepsihosp Filadelfia, Danish Epilepsy Ctr, Dianalund, Denmark Univ Hosp, Dept Paediat, Rigshosp, Copenhagen, Denmark Epilepsihosp Filadelfia, Danish Epilepsy Ctr, Dianalund, DenmarkMadsen, Camilla Gobel论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Funct & Diagnost Imaging & Res, Hvidovre Hosp, MRI Team,Dept Radiol, Hvidovre, Denmark Epilepsihosp Filadelfia, Danish Epilepsy Ctr, Dianalund, DenmarkNikanorova, Marina论文数: 0 引用数: 0 h-index: 0机构: Epilepsihosp Filadelfia, Danish Epilepsy Ctr, Dianalund, Denmark Epilepsihosp Filadelfia, Danish Epilepsy Ctr, Dianalund, DenmarkFabricius, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Denmark, Inst Reg Hlth Serv Res, Odense, Denmark Univ Hosp, Rigshosp, Dept Clin Neurophysiol, Copenhagen, Denmark Epilepsihosp Filadelfia, Danish Epilepsy Ctr, Dianalund, DenmarkHogenhaven, Hans论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Neurol, Odense, Denmark Epilepsihosp Filadelfia, Danish Epilepsy Ctr, Dianalund, DenmarkPisani, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Neurosci, Child Neuropsychiat Unit, Parma, Italy Epilepsihosp Filadelfia, Danish Epilepsy Ctr, Dianalund, DenmarkMoller, Rikke S.论文数: 0 引用数: 0 h-index: 0机构: Epilepsihosp Filadelfia, Danish Epilepsy Ctr, Dianalund, Denmark Univ Southern Denmark, Inst Reg Hlth Serv Res, Odense, Denmark Epilepsihosp Filadelfia, Danish Epilepsy Ctr, Dianalund, Denmark论文数: 引用数: h-index:机构:Rubboli, Guido论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Epilepsihosp Filadelfia, Danish Epilepsy Ctr, Dianalund, Denmark Bellaria Hosp, IRCCS Inst Neurol Sci, Bologna, Italy Epilepsihosp Filadelfia, Danish Epilepsy Ctr, Dianalund, Denmark
- [22] Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 VariationsAPPLICATION OF CLINICAL GENETICS, 2020, 13 : 71 - 81Capuano, Alessandro论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci & Neurorehabil, Movement Disorders Clin, Viale San Paolo 15, I-00153 Rome, Italy IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci & Neurorehabil, Movement Disorders Clin, Viale San Paolo 15, I-00153 Rome, ItalyGarone, Giacomo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci & Neurorehabil, Movement Disorders Clin, Viale San Paolo 15, I-00153 Rome, Italy Univ Roma Tor Vergata, Univ Hosp Pediat Dept, IRCCS Bambino Gesu Childrens Hosp, Rome, Italy IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci & Neurorehabil, Movement Disorders Clin, Viale San Paolo 15, I-00153 Rome, ItalyTiralongo, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci & Neurorehabil, Movement Disorders Clin, Viale San Paolo 15, I-00153 Rome, Italy IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci & Neurorehabil, Movement Disorders Clin, Viale San Paolo 15, I-00153 Rome, ItalyGraziola, Federica论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci & Neurorehabil, Movement Disorders Clin, Viale San Paolo 15, I-00153 Rome, Italy IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci & Neurorehabil, Movement Disorders Clin, Viale San Paolo 15, I-00153 Rome, Italy
- [23] Asystole in alternating hemiplegia with de novo ATP1A3 mutationEUROPEAN JOURNAL OF MEDICAL GENETICS, 2014, 57 (01) : 37 - 39Novy, Jan论文数: 0 引用数: 0 h-index: 0机构: NIHR Univ Coll London Hosp, UCL Inst Neurol, Biomed Res Ctr, Dept Clin & Expt Epilepsy, London WC1N 3BG, England NIHR Univ Coll London Hosp, UCL Inst Neurol, Biomed Res Ctr, Dept Clin & Expt Epilepsy, London WC1N 3BG, EnglandMcWilliams, Eric论文数: 0 引用数: 0 h-index: 0机构: Conquest Hosp, Dept Cardiol, St Leonard On Sea, E Sussex, England NIHR Univ Coll London Hosp, UCL Inst Neurol, Biomed Res Ctr, Dept Clin & Expt Epilepsy, London WC1N 3BG, EnglandSisodiya, Sanjay M.论文数: 0 引用数: 0 h-index: 0机构: NIHR Univ Coll London Hosp, UCL Inst Neurol, Biomed Res Ctr, Dept Clin & Expt Epilepsy, London WC1N 3BG, England NIHR Univ Coll London Hosp, UCL Inst Neurol, Biomed Res Ctr, Dept Clin & Expt Epilepsy, London WC1N 3BG, England
- [24] Opsoclonus in Alternating Hemiplegia of Childhood Secondary to ATP1A3 p.Gly803ArgMOVEMENT DISORDERS CLINICAL PRACTICE, 2025, 12 (01): : 97 - 99Runco, Alyssa D.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Pediat Neurol Dev Neurosci, Fannin St,Suite 1250, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Pediat, Sect Pediat Neurol Dev Neurosci, Fannin St,Suite 1250, Houston, TX 77030 USALevine, Jesse M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Pediat Neurol Dev Neurosci, Fannin St,Suite 1250, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Pediat, Sect Pediat Neurol Dev Neurosci, Fannin St,Suite 1250, Houston, TX 77030 USATrandafir, Cristina论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Pediat Neurol Dev Neurosci, Fannin St,Suite 1250, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Pediat, Sect Pediat Neurol Dev Neurosci, Fannin St,Suite 1250, Houston, TX 77030 USAForoozan, Rod论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Ophthalmol, Houston, TX USA Baylor Coll Med, Dept Pediat, Sect Pediat Neurol Dev Neurosci, Fannin St,Suite 1250, Houston, TX 77030 USAParnes, Mered论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Pediat Neurol Dev Neurosci, Fannin St,Suite 1250, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Pediat, Sect Pediat Neurol Dev Neurosci, Fannin St,Suite 1250, Houston, TX 77030 USACalame, Daniel G.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Pediat Neurol Dev Neurosci, Fannin St,Suite 1250, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Pediat, Sect Pediat Neurol Dev Neurosci, Fannin St,Suite 1250, Houston, TX 77030 USA
- [25] A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencingBOLETIN MEDICO DEL HOSPITAL INFANTIL DE MEXICO, 2019, 76 (01): : 49 - 53Galaz-Montoya, Carolina, I论文数: 0 引用数: 0 h-index: 0机构: ISSSTE, Ctr Med Nacl Noviembre 20, Div Med Genom, Mexico City, DF, MexicoAlcaraz-Estrada, Sofia论文数: 0 引用数: 0 h-index: 0机构: ISSSTE, Ctr Med Nacl Noviembre 20, Div Med Genom, Mexico City, DF, Mexico ISSSTE, Ctr Med Nacl Noviembre 20, Div Med Genom, Mexico City, DF, MexicoGarcia-Montano, Leopoldo A.论文数: 0 引用数: 0 h-index: 0机构: Inst Oftalmol Conde Valencia, Reseatch Unit Genet, Mexico City, DF, Mexico ISSSTE, Ctr Med Nacl Noviembre 20, Div Med Genom, Mexico City, DF, MexicoZenteno, Juan C.论文数: 0 引用数: 0 h-index: 0机构: Inst Oftalmol Conde Valencia, Reseatch Unit Genet, Mexico City, DF, Mexico Univ Nacl Autonoma Mexico, Fac Med, Dept Biochem, Mexico City, DF, Mexico ISSSTE, Ctr Med Nacl Noviembre 20, Div Med Genom, Mexico City, DF, MexicoPina-Aguilar, Raul E.论文数: 0 引用数: 0 h-index: 0机构: Univ Aberdeen, Sch Med Med Sci & Nutr, Aberdeen, Scotland ISSSTE, Ctr Med Nacl Noviembre 20, Div Med Genom, Mexico City, DF, Mexico
- [26] Neuropathology of a case of alternating hemiplegia of childhood associated with E815K variant of the ATP1A3 geneJOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2023, 82 (06): : 580 - 580Sano, T.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, JapanNakayama, Y.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, JapanKawano, O.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, JapanMotohashi, Y.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, JapanSumitomo, N.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, JapanTakeshita, E.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, JapanSaito, T.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, JapanKomaki, H.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, JapanNakagawa, E.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, JapanMizutani, M.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, JapanSasaki, M.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, JapanTakao, M.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan
- [27] Identical ATP1A3 Mutation Causes Alternating Hemiplegia of Childhood and Rapid-Onset Dystonia Parkinsonism PhenotypesPEDIATRIC NEUROLOGY, 2014, 51 (06) : 850 - 853Boelman, Cyrus论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaLagman-Bartolome, Ana Marissa论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaMacGregor, Daune L.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaMcCabe, Jane论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaLogan, Willam J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaMinassian, Berge A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
- [28] Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative geneEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 (02) : 224 - 231Panagiotakaki, Eleni论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, France Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceTiziano, Francesco D.论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ, Inst Genom Med, Rome, Italy Catholic Univ, Fdn Policlin Univ Agostino, Policlin Gemelli, Rome, Italy Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceMikati, Mohamad A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Div Pediat Neurol & Dev Med, Durham, NC USA Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceVijfhuizen, Lisanne S.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceNicole, Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Inst Funct Genom, CNRS, INSERM, Montpellier, France Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceLesca, Gaetan论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Lyon, Dept Med Genet, Lyon, France Claude Bernard Lyon I Univ, Lyon, France UCBL, Pathophysiol & Genet Neuron & Muscle PNMG, CNRS, UMR5261,INSERM U1315, Lyon, France Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceAbiusi, Emanuela论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Dept Life Sci & Publ Hlth, Sect Genom Med, Rome, Italy Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceNovelli, Agnese论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Dept Life Sci & Publ Hlth, Sect Genom Med, Rome, Italy Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceDi Pietro, Lorena论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ, Inst Genom Med, Rome, Italy Catholic Univ, Fdn Policlin Univ Agostino, Policlin Gemelli, Rome, Italy Univ Cattolica Sacro Cuore, Dept Life Sci & Publ Hlth, Sect Genom Med, Rome, Italy Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceHarder, Aster V. E.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceWalley, Nicole M.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Pediat, Div Med Genet, Durham, NC USA Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceDe Grandis, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol, Genet Maternal & Child Hlth, Genoa, Italy IRCCS Ist Giannina Gaslini, Child Neuropsychiat Unit, Genoa, Italy Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FrancePoulat, Anne-Lise论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Lyon HCL, ERN EpiCARE, Pediat Neurol Dept, ERN EpiCARE, Lyon, France Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FrancePortes, Vincent Des论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Lyon HCL, ERN EpiCARE, Pediat Neurol Dept, ERN EpiCARE, Lyon, France Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceLepine, Anne论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Timone, Serv Neuropediat, Marseille, France Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceNassogne, Marie-Cecile论文数: 0 引用数: 0 h-index: 0机构: UCLouvain, Inst Malad Rares, Clin Univ St Luc, Brussels, Belgium UCLouvain, Clin Univ St Luc, Obstet, Brussels, Belgium Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceArzimanoglou, Alexis论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, France Hosp San Juan Dios, ERN EpiCARE, Dept Child Neurol, Barcelona, Spain Hosp San Juan Dios, Epilepsy Res Unit, Barcelona, Spain Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceVavassori, Rosaria论文数: 0 引用数: 0 h-index: 0机构: Euromediterranean Inst Sci & Technol IEMEST, Palermo, Italy Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceKoenderink, Jan论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Nijmegen Med Ctr, Dept Pharmacol Toxicol, Nijmegen, Netherlands Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceThompson, Christopher H.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Feinberg Sch Med, Dept Pharmacol, Chicago, IL USA Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceGeorge, Alfred L., Jr.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Feinberg Sch Med, Dept Pharmacol, Chicago, IL USA Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceGurrieri, Fiorella论文数: 0 引用数: 0 h-index: 0机构: Univ Campus Biomed Roma, Dept Med & Surg, Res Unit Med Oncol, Rome, Italy Fdn Policlin Univ Campus Biomed, Operat Res Unit Med Oncol, Rome, Italy Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, Francevan den Maagdenberg, Arn M. J. M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, FranceHeinzen, Erin L.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Eshelman Sch Pharm, Div Pharmacotherapy & Expt Therapeut, Chapel Hill, NC 27599 USA Univ North Carolina Chapel Hill, Sch Med, Dept Genet, Chapel Hill, NC 27599 USA Univ Hosp Lyon HCL, Dept Paediat Clin Epileptol, Sleep Disorders & Funct Neurol, ERN EpiCare, Lyon, France
- [29] Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative geneEuropean Journal of Human Genetics, 2024, 32 : 224 - 231Eleni Panagiotakaki论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareFrancesco D. Tiziano论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareMohamad A. Mikati论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareLisanne S. Vijfhuizen论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareSophie Nicole论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareGaetan Lesca论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareEmanuela Abiusi论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareAgnese Novelli论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareLorena Di Pietro论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareAster V. E. Harder论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareNicole M. Walley论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareElisa De Grandis论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareAnne-Lise Poulat论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareVincent Des Portes论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareAnne Lépine论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareMarie-Cecile Nassogne论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareAlexis Arzimanoglou论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareRosaria Vavassori论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareJan Koenderink论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareChristopher H. Thompson论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareAlfred L. George论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareFiorella Gurrieri论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareArn M. J. M. van den Maagdenberg论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCareErin L. Heinzen论文数: 0 引用数: 0 h-index: 0机构: University Hospitals of Lyon (HCL),Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCare
- [30] The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and BeyondPEDIATRIC NEUROLOGY, 2015, 52 (01) : 56 - 64Sweney, Matthew T.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Pediat, Dept Neurol, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Pediat, Dept Neurol, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Dept Neurol, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Pediat, Dept Neurol, Salt Lake City, UT 84132 USANewcomb, Tara M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Dept Neurol, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Pediat, Dept Neurol, Salt Lake City, UT 84132 USASwoboda, Kathryn J.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Dept Neurol, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Pediat, Dept Neurol, Salt Lake City, UT 84132 USA