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- [21] Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathyANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2019, 6 (09): : 1606 - 1615Gertler, Tracy S.论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pediat, Div Neurol, Chicago, IL 60654 USA Northwestern Univ, Dept Pharmacol, Feinberg Sch Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pediat, Div Neurol, Chicago, IL 60654 USAThompson, Christopher H.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Dept Pharmacol, Feinberg Sch Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pediat, Div Neurol, Chicago, IL 60654 USAVanoye, Carlos G.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Dept Pharmacol, Feinberg Sch Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pediat, Div Neurol, Chicago, IL 60654 USAMillichap, John J.论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pediat, Div Neurol, Chicago, IL 60654 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pediat, Div Neurol, Chicago, IL 60654 USAGeorge, Alfred L., Jr.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Dept Pharmacol, Feinberg Sch Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pediat, Div Neurol, Chicago, IL 60654 USA
- [22] Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe EncephalopathyAMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (01) : 151 - 159Ait-El-Mkadem, Samira论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, France Univ Nice Sophia Antipolis, CNRS UMR 7284, INSERM U1081, Inst Res Canc & Aging, F-06107 Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceDayem-Quere, Manal论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, France Univ Nice Sophia Antipolis, CNRS UMR 7284, INSERM U1081, Inst Res Canc & Aging, F-06107 Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceGusic, Mirjana论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceChaussenot, Annabelle论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, France Univ Nice Sophia Antipolis, CNRS UMR 7284, INSERM U1081, Inst Res Canc & Aging, F-06107 Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceBannwarth, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, France Univ Nice Sophia Antipolis, CNRS UMR 7284, INSERM U1081, Inst Res Canc & Aging, F-06107 Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceFrancois, Berengere论文数: 0 引用数: 0 h-index: 0机构: Univ Nice Sophia Antipolis, CNRS UMR 7284, INSERM U1081, Inst Res Canc & Aging, F-06107 Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceGenin, Emmanuelle C.论文数: 0 引用数: 0 h-index: 0机构: Univ Nice Sophia Antipolis, CNRS UMR 7284, INSERM U1081, Inst Res Canc & Aging, F-06107 Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceFragaki, Konstantina论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, France Univ Nice Sophia Antipolis, CNRS UMR 7284, INSERM U1081, Inst Res Canc & Aging, F-06107 Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceVolker-Touw, Catharina L. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3584 Utrecht, Netherlands Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceVasnier, Christelle论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Univ Paris Sud, CNRS, Commissariat Energie Atom & Energies Alternat,I2B, F-91198 Gif Sur Yvette, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceSerre, Valerie论文数: 0 引用数: 0 h-index: 0机构: Paris Diderot Univ, Inst Jacques Monod, CNRS UMR 7592, F-75205 Paris, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, Francevan Gassen, Koen L. I.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3584 Utrecht, Netherlands Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, France论文数: 引用数: h-index:机构:Richter, Susan论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Med Fac Carl Gustav Carus, Inst Clin Chem & Lab Med, Fetscherstr 74, D-01307 Dresden, Germany Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceEisenhofer, Graeme论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Med Fac Carl Gustav Carus, Inst Clin Chem & Lab Med, Fetscherstr 74, D-01307 Dresden, Germany Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceRouzier, Cecile论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, France Univ Nice Sophia Antipolis, CNRS UMR 7284, INSERM U1081, Inst Res Canc & Aging, F-06107 Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, France论文数: 引用数: h-index:机构:De Saint-Martin, Anne论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Strasbourg, Ctr Reference Epilepsies Rares, Serv Neurol Pediat, F-67098 Strasbourg, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceWarde, Marie-Therese Abi论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Strasbourg, Ctr Reference Epilepsies Rares, Serv Neurol Pediat, F-67098 Strasbourg, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, Francede Sain-van der Velde, Monique G. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Lab Metab Dis, NL-3584 Utrecht, Netherlands Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceJans, Judith J. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Lab Metab Dis, NL-3584 Utrecht, Netherlands Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceAmiel, Jeanne论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceAvsec, Ziga论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Dept Informat, D-85748 Garching, Germany Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceMertes, Christian论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Dept Informat, D-85748 Garching, Germany Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceStrom, Tim论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceMeitinger, Thomas论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceBonnen, Penelope E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceTaylor, Robert W.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceGagneur, Julien论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Dept Informat, D-85748 Garching, Germany Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, Francevan Hasselt, Peter M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Metab Dis, NL-3584 Utrecht, Netherlands Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceRotig, Agnes论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Inst Imagine, INSERM U1163, F-75015 Paris, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceDelahodde, Agnes论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Univ Paris Sud, CNRS, Commissariat Energie Atom & Energies Alternat,I2B, F-91198 Gif Sur Yvette, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceProkisch, Holger论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FranceFuchs, Sabine A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Lab Metab Dis, NL-3584 Utrecht, Netherlands Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, FrancePaquis-Flucklinger, Veronique论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, France Univ Nice Sophia Antipolis, CNRS UMR 7284, INSERM U1081, Inst Res Canc & Aging, F-06107 Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, F-06202 Nice, France
- [23] Galloway-Mowat syndrome: An early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literatureSEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2010, 19 (02): : 132 - 135Pezzella, Marianna论文数: 0 引用数: 0 h-index: 0机构: Inst G Gaslini, Muscular & Neurodegenerat Dis Unit, Genoa, Italy Yerevan State Med Univ, Armenian Republican Epilepsy Ctr Erebouni, Yerevan 0087, ArmeniaYeghiazaryan, Nune S.论文数: 0 引用数: 0 h-index: 0机构: Yerevan State Med Univ, Armenian Republican Epilepsy Ctr Erebouni, Yerevan 0087, Armenia Inst G Gaslini, Muscular & Neurodegenerat Dis Unit, Genoa, Italy Yerevan State Med Univ, Armenian Republican Epilepsy Ctr Erebouni, Yerevan 0087, ArmeniaVeggiotti, Pierangelo论文数: 0 引用数: 0 h-index: 0机构: Neurol Inst C Mondino, Dept Child Neurol & Psychiat, Mondino, Italy Yerevan State Med Univ, Armenian Republican Epilepsy Ctr Erebouni, Yerevan 0087, ArmeniaBettinelli, Alberto论文数: 0 引用数: 0 h-index: 0机构: Fdn Osped Maggiore Policlin Mangiagalli & Regina, Pediat Renal Unit, Milan, Italy Fdn Osped Maggiore Policlin Mangiagalli & Regina, Lab Med Genet, Milan, Italy Yerevan State Med Univ, Armenian Republican Epilepsy Ctr Erebouni, Yerevan 0087, ArmeniaGiudizioso, Giovanna论文数: 0 引用数: 0 h-index: 0机构: Inst G Gaslini, Muscular & Neurodegenerat Dis Unit, Genoa, Italy Yerevan State Med Univ, Armenian Republican Epilepsy Ctr Erebouni, Yerevan 0087, ArmeniaZara, Federico论文数: 0 引用数: 0 h-index: 0机构: Inst G Gaslini, Muscular & Neurodegenerat Dis Unit, Genoa, Italy Yerevan State Med Univ, Armenian Republican Epilepsy Ctr Erebouni, Yerevan 0087, ArmeniaStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Inst G Gaslini, Muscular & Neurodegenerat Dis Unit, Genoa, Italy Yerevan State Med Univ, Armenian Republican Epilepsy Ctr Erebouni, Yerevan 0087, ArmeniaMinetti, Carlo论文数: 0 引用数: 0 h-index: 0机构: Inst G Gaslini, Muscular & Neurodegenerat Dis Unit, Genoa, Italy Yerevan State Med Univ, Armenian Republican Epilepsy Ctr Erebouni, Yerevan 0087, Armenia
- [24] Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature ReviewDEVELOPMENTAL NEUROSCIENCE, 2021, 43 (06) : 348 - 357Binaafar, Sima论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Growth & Dev Res Ctr, Tehran, Iran Univ Tehran Med Sci, Growth & Dev Res Ctr, Tehran, IranGarshasbi, Masoud论文数: 0 引用数: 0 h-index: 0机构: Tarbiat Modares Univ, Fac Med Sci, Dept Med Genet, Tehran, Iran Univ Tehran Med Sci, Growth & Dev Res Ctr, Tehran, IranTavasoli, Ali Reza论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Pediat Ctr Excellence, Childrens Med Ctr, Myelin Disorders Clin,Pediat Neurol Div, Tehran, Iran Univ Tehran Med Sci, Growth & Dev Res Ctr, Tehran, IranBadv, Reza Shervin论文数: 0 引用数: 0 h-index: 0机构: Tehran Univ Med Ctr, Pediat Ctr Excellence, Childrens Hosp Ctr, Tehran, Iran Univ Tehran Med Sci, Growth & Dev Res Ctr, Tehran, IranHosseiny, Seyyed Mohammad Mahdi论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Pediat Ctr Excellence, Childrens Med Ctr, Myelin Disorders Clin,Pediat Neurol Div, Tehran, Iran Univ Tehran Med Sci, Growth & Dev Res Ctr, Tehran, IranSamanta, Debopam论文数: 0 引用数: 0 h-index: 0机构: Univ Arkansas Med Sci, Dept Pediat, Child Neurol Sect, Little Rock, AR 72205 USA Univ Tehran Med Sci, Growth & Dev Res Ctr, Tehran, Iran论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
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