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- [31] Reduced steroidogenesis in patients with PCDH19-female limited epilepsyEPILEPSIA, 2017, 58 (06) : E91 - E95Trivisano, Marina论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, Italy Univ Foggia, Clin Nervous Syst Dis, Foggia, Italy Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, ItalyLucchi, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, 287 Campi St, I-41125 Modena, Italy AUSL Modena, NOCSAE Hosp, Dept Neurosci, Modena, Italy Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, ItalyRustichelli, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Life Sci, Modena, Italy Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, ItalyTerracciano, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Mol Med Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, ItalyCusmai, Raffaella论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, ItalyUbertini, Grazia Maria论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Dept Pediat, Unit Endocrinol & Diabet, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, ItalyGiannone, Germana论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Dept Chem, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, ItalyBertini, Enrico Silvio论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Mol Med Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, ItalyVigevano, Federico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, ItalyGecz, Jozef论文数: 0 引用数: 0 h-index: 0机构: Univ Adelaide, Sch Med, Adelaide, SA, Australia Univ Adelaide, Robinson Res Inst, Adelaide, SA, Australia South Australian Hlth & Med Res Inst, Adelaide, SA, Australia Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, ItalyBiagini, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, 287 Campi St, I-41125 Modena, Italy AUSL Modena, NOCSAE Hosp, Dept Neurosci, Modena, Italy Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, ItalySpecchio, Nicola论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Neurol Unit, Rome, Italy
- [32] Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsyFRONTIERS IN NEUROLOGY, 2023, 14Zhou, Wenjuan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 3, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 3, Changsha, Hunan, Peoples R ChinaOuyang, Yuzhen论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 3, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Sch Med, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 3, Changsha, Hunan, Peoples R ChinaJi, Yuqiao论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 3, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Sch Med, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 3, Changsha, Hunan, Peoples R ChinaXi, Qiong论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 3, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 3, Changsha, Hunan, Peoples R ChinaZhao, Lingling论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 3, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 3, Changsha, Hunan, Peoples R China
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- [34] Parvalbumin-Positive Interneuron Alterations in a Mouse Model of Pcdh19 Clustering EpilepsyANNALS OF NEUROLOGY, 2024, 96 : S258 - S259论文数: 引用数: h-index:机构:
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- [36] A novel PCDH19 gene mutation in a hemizygous male with epilepsy, new insight to the pathophysiologyJOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455Kowkabi, Safoura论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Childrens Med Ctr, Shiraz, Iran Univ Tehran Med Sci, Childrens Med Ctr, Shiraz, IranMohammadi, Mahmood论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Childrens Med Ctr, Tehran, Iran Univ Tehran Med Sci, Childrens Med Ctr, Shiraz, IranKaboodkhani, Reza论文数: 0 引用数: 0 h-index: 0机构: Shiraz Univ Med Sci, Shiraz, Iran Univ Tehran Med Sci, Childrens Med Ctr, Shiraz, Iran论文数: 引用数: h-index:机构:
- [37] Clinical Genetic Characteristics of Epilepsy Due to Mutations in the PCDH19 Gene (OMIM: 300088)Neuroscience and Behavioral Physiology, 2020, 50 (9) : 1099 - 1104Dadali E.L.论文数: 0 引用数: 0 h-index: 0机构: Bochkov Medical Genetic Science Center, Moscow Pirogov Russian National Research Medical University, Russian Ministry of Health, Moscow Bochkov Medical Genetic Science Center, MoscowMishina I.A.论文数: 0 引用数: 0 h-index: 0机构: Bochkov Medical Genetic Science Center, Moscow Bochkov Medical Genetic Science Center, MoscowBorovikov A.O.论文数: 0 引用数: 0 h-index: 0机构: Bochkov Medical Genetic Science Center, Moscow Bochkov Medical Genetic Science Center, MoscowSharkov A.A.论文数: 0 引用数: 0 h-index: 0机构: Pirogov Russian National Research Medical University, Russian Ministry of Health, Moscow Bochkov Medical Genetic Science Center, MoscowKanivets I.V.论文数: 0 引用数: 0 h-index: 0机构: Genomed, Moscow Bochkov Medical Genetic Science Center, Moscow
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- [39] EFFECTIVENESS OF ANTIEPILEPTIC THERAPY IN CATASTROPHIC INFANTILE EPILEPSY: COMPARISON OF PATIENTS WITH SCN1A AND PCDH19 MUTATIONSEPILEPSIA, 2014, 55 : 5 - 6Lotte, J.论文数: 0 引用数: 0 h-index: 0机构: Kinderzentrum, Maulbronn, Germany Kinderzentrum, Maulbronn, GermanyBast, T.论文数: 0 引用数: 0 h-index: 0机构: Epilepsiezentrum, Epilepsieklin Kinder & Jugendliche, Kork, Germany Kinderzentrum, Maulbronn, Germany论文数: 引用数: h-index:机构:Coppola, A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Hosp, Dept Clin & Expt Epilepsy, London, England Kinderzentrum, Maulbronn, GermanyCross, H.论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Hosp, Dept Clin & Expt Epilepsy, London, England Kinderzentrum, Maulbronn, GermanyDimova, P.论文数: 0 引用数: 0 h-index: 0机构: St Naum Univ Hosp Neurol & Psychiat, Clin Child Neurol, Sofia, Bulgaria Kinderzentrum, Maulbronn, GermanyFernandez, Sanchez, I论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Epilepsy & Clin Neurophysiol, Boston, MA USA Kinderzentrum, Maulbronn, GermanyFogarasi, A.论文数: 0 引用数: 0 h-index: 0机构: Bethesda Childrens Hosp, Neurol Dept, Budapest, Hungary Kinderzentrum, Maulbronn, GermanyGraness, I论文数: 0 引用数: 0 h-index: 0机构: Waldklinikum, Gera, Germany Kinderzentrum, Maulbronn, GermanyGuerrini, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, A Meyer Childrens Hosp, Child Neurol Unit, Florence, Italy Kinderzentrum, Maulbronn, GermanyHjalgrim, H.论文数: 0 引用数: 0 h-index: 0机构: Epilepsihosp Filadelfia, Danish Epilepsie Ctr, Dianalund, Denmark Kinderzentrum, Maulbronn, GermanyLeiz, S.论文数: 0 引用数: 0 h-index: 0机构: Kinderklin Dritter Orden, Munich, Germany Kinderzentrum, Maulbronn, GermanyLinder-Lucht, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp del Mar, Serv Pediat, Barcelona, Spain Hosp del Mar, Unidad Epilepsia, Barcelona, Spain Kinderzentrum, Maulbronn, GermanyLoddenkemper, T.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Epilepsy & Clin Neurophysiol, Boston, MA USA Kinderzentrum, Maulbronn, GermanyMakowski, C.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Klinikum Schwabing, Kinderklin, D-80290 Munich, Germany Kinderzentrum, Maulbronn, GermanyMueller, A.论文数: 0 引用数: 0 h-index: 0机构: Schon Kliniken, Vogtareuth, Germany Kinderzentrum, Maulbronn, GermanyNicolai, J.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, Netherlands Kinderzentrum, Maulbronn, GermanyPellacani, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, A Meyer Childrens Hosp, Child Neurol Unit, Florence, Italy Kinderzentrum, Maulbronn, GermanyPhilip, S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Birmingham B16 8ET, W Midlands, England Kinderzentrum, Maulbronn, GermanyRuf, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Kinderklin, Tubingen, Germany Kinderzentrum, Maulbronn, GermanySelch, C.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Klinikum Schwabing, Kinderklin, D-80290 Munich, Germany Kinderzentrum, Maulbronn, GermanySchlachter, K.论文数: 0 引用数: 0 h-index: 0机构: Landeskrankenhaus, Dept Pediat, Bregenz, Austria Kinderzentrum, Maulbronn, GermanyStriano, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Inst Gaslini, Genoa, Italy Kinderzentrum, Maulbronn, GermanySukhudyan, B.论文数: 0 引用数: 0 h-index: 0机构: Arabkir Med Complex, Yerevan, Armenia Kinderzentrum, Maulbronn, GermanyVermeulen, R. J.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Amsterdam, Netherlands Kinderzentrum, Maulbronn, GermanyStaudt, M.论文数: 0 引用数: 0 h-index: 0机构: Schon Kliniken, Vogtareuth, Germany Kinderzentrum, Maulbronn, GermanyWolf, P.论文数: 0 引用数: 0 h-index: 0机构: DRK Childrens Hosp, Dept Neuropediat, Siegen, Germany Kinderzentrum, Maulbronn, GermanyKluger, G.论文数: 0 引用数: 0 h-index: 0机构: Schon Kliniken, Vogtareuth, Germany Kinderzentrum, Maulbronn, Germany
- [40] PATIENTS AFFECTED BY MOSAIC PCDH19 MUTATIONS: 5 NEW CASESEPILEPSIA, 2017, 58 : S119 - S119de lange, I.论文数: 0 引用数: 0 h-index: 0机构: UMC Utrecht, Genet, Utrecht, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsRump, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Genet, Groningen, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsNeuteboom, R.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Neurol, Rotterdam, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsAugustijn, P.论文数: 0 引用数: 0 h-index: 0机构: SEIN, Child Epileptol, Heemstede, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsHodges, K.论文数: 0 引用数: 0 h-index: 0机构: Miller Childrens Hosp, Adult & Child Neurol, Long Beach, CA USA UMC Utrecht, Genet, Utrecht, NetherlandsKistemaker, A.论文数: 0 引用数: 0 h-index: 0机构: Tjongerschans Hosp, Neurol, Heereveen, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsBrouwer, O.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Neurol, Groningen, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsMancini, G.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Clin Genet, Rotterdam, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsNewman, H.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Clin Diagnost, Aliso Viejo, CA USA UMC Utrecht, Genet, Utrecht, NetherlandsVos, Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Genet, Groningen, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsHelbig, K.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Clin Diagnost, Aliso Viejo, CA USA UMC Utrecht, Genet, Utrecht, NetherlandsPeeters-Scholte, C.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Neurol, Leiden, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsKriek, M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Clin Genet, Leiden, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsKnoers, N.论文数: 0 引用数: 0 h-index: 0机构: UMC Utrecht, Genet, Utrecht, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsLindhout, D.论文数: 0 引用数: 0 h-index: 0机构: UMC Utrecht, Genet, Utrecht, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsKoeleman, B.论文数: 0 引用数: 0 h-index: 0机构: UMC Utrecht, Genet, Utrecht, Netherlands UMC Utrecht, Genet, Utrecht, Netherlandsvan Kempen, M.论文数: 0 引用数: 0 h-index: 0机构: UMC Utrecht, Genet, Utrecht, Netherlands UMC Utrecht, Genet, Utrecht, NetherlandsBrilstra, E.论文数: 0 引用数: 0 h-index: 0机构: UMC Utrecht, Genet, Utrecht, Netherlands UMC Utrecht, Genet, Utrecht, Netherlands