共 50 条
- [1] Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteriaBRAIN & DEVELOPMENT, 2010, 32 (01) : 17 - 24论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Marozza, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biol Mol, I-53100 Siena, Italy Univ Siena, Dept Biol Mol, I-53100 Siena, ItalyCilio, M. R.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Div Neurol, Rome, Italy Univ Siena, Dept Biol Mol, I-53100 Siena, ItalySpecchio, N.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Div Neurol, Rome, Italy Univ Siena, Dept Biol Mol, I-53100 Siena, ItalyVigevano, F.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Div Neurol, Rome, Italy Univ Siena, Dept Biol Mol, I-53100 Siena, ItalyVecchi, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Pediat Neurol Unit, I-35100 Padua, Italy Univ Siena, Dept Biol Mol, I-53100 Siena, ItalyBoniver, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Pediat Neurol Unit, I-35100 Padua, Italy Univ Siena, Dept Biol Mol, I-53100 Siena, ItalyDalla Bernardina, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Serv Neuropsichiat Infantile, I-37100 Verona, Italy Univ Siena, Dept Biol Mol, I-53100 Siena, ItalyParmeggiani, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Neurol Sci, Child Neurol & Psychiat Unit, I-40126 Bologna, Italy Univ Siena, Dept Biol Mol, I-53100 Siena, ItalyBuoni, S.论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Senese, Siena, Italy Univ Siena, Dept Biol Mol, I-53100 Siena, ItalyHayek, G.论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Senese, Siena, Italy Univ Siena, Dept Biol Mol, I-53100 Siena, ItalyMari, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biol Mol, I-53100 Siena, Italy Univ Siena, Dept Biol Mol, I-53100 Siena, ItalyRenieri, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biol Mol, I-53100 Siena, Italy Univ Siena, Dept Biol Mol, I-53100 Siena, Italy论文数: 引用数: h-index:机构:
- [2] NAPB-a novel SNARE-associated protein for early-onset epileptic encephalopathyCLINICAL GENETICS, 2016, 89 (02) : E1 - E3Conroy, J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dept Res, Temple St, Dublin, Ireland Univ Coll Dublin, Acad Ctr Rare Dis, Sch Med & Med Sci, Room C328, Dublin 4, Ireland Childrens Univ Hosp, Dept Res, Temple St, Dublin, IrelandAllen, N. M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dept Child Neurol & Clin Neurophysiol, Temple St, Dublin, Ireland Childrens Univ Hosp, Dept Res, Temple St, Dublin, IrelandGorman, K. M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dept Child Neurol & Clin Neurophysiol, Temple St, Dublin, Ireland Childrens Univ Hosp, Dept Res, Temple St, Dublin, IrelandShahwan, A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dept Child Neurol & Clin Neurophysiol, Temple St, Dublin, Ireland Childrens Univ Hosp, Dept Res, Temple St, Dublin, IrelandEnnis, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Dublin, Acad Ctr Rare Dis, Sch Med & Med Sci, Room C328, Dublin 4, Ireland Childrens Univ Hosp, Dept Res, Temple St, Dublin, IrelandLynch, S. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Dublin, Acad Ctr Rare Dis, Sch Med & Med Sci, Room C328, Dublin 4, Ireland Childrens Univ Hosp, Natl Ctr Med Genet, Temple St, Dublin, Ireland Childrens Univ Hosp, Dept Res, Temple St, Dublin, IrelandKing, M. D.论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Dublin, Acad Ctr Rare Dis, Sch Med & Med Sci, Room C328, Dublin 4, Ireland Childrens Univ Hosp, Dept Child Neurol & Clin Neurophysiol, Temple St, Dublin, Ireland Childrens Univ Hosp, Dept Res, Temple St, Dublin, Ireland
- [3] GABBR2 Mutations Determine Phenotype in Rett Syndrome and Epileptic EncephalopathyANNALS OF NEUROLOGY, 2017, 82 (03) : 466 - 478Yoo, Yongjin论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaJung, Jane论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med, Dept Anat, Brain Res Inst, Seoul 03722, South Korea Yonsei Univ, Coll Med, Brain Korea PLUS Project Med Sci 21, Seoul 03722, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaLee, Yoo-Na论文数: 0 引用数: 0 h-index: 0机构: Korea Univ, Grad Sch Med, Seoul, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaLee, Youngha论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaCho, Hyosuk论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaNa, Eunjung论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med, Dept Anat, Brain Res Inst, Seoul 03722, South Korea Yonsei Univ, Coll Med, Brain Korea PLUS Project Med Sci 21, Seoul 03722, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaHong, JeaYeok论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med, Dept Anat, Brain Res Inst, Seoul 03722, South Korea Yonsei Univ, Coll Med, Brain Korea PLUS Project Med Sci 21, Seoul 03722, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaKim, Eunjin论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med, Dept Anat, Brain Res Inst, Seoul 03722, South Korea Yonsei Univ, Coll Med, Brain Korea PLUS Project Med Sci 21, Seoul 03722, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaLee, Jin Sook论文数: 0 引用数: 0 h-index: 0机构: Gachon Univ, Dept Genome Med & Sci, Dept Pediat, Gil Med Ctr, Incheon, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaLee, Je Sang论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ, Dept Rehabil Med, Coll Med, Pusan, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South Korea论文数: 引用数: h-index:机构:Park, Sang-Yoon论文数: 0 引用数: 0 h-index: 0机构: Kyung Hee Univ, Dept Sci Korean Med, Coll Korean Med, Canc Prevent Mat Dev Res Ctr, Seoul, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaWie, Jinhong论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South Korea Seoul Natl Univ, Dept Physiol, Coll Med, Seoul, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaMiller, Kathryn论文数: 0 引用数: 0 h-index: 0机构: Albany Med Ctr, Albany, NY USA Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaShur, Natasha论文数: 0 引用数: 0 h-index: 0机构: Albany Med Ctr, Albany, NY USA Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaClow, Cheryl论文数: 0 引用数: 0 h-index: 0机构: Albany Med Ctr, Albany, NY USA Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaEbel, Roseanne S.论文数: 0 引用数: 0 h-index: 0机构: UH Cleveland Med Ctr, Ctr Human Genet, Cleveland, OH USA Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaDeBrosse, Suzanne D.论文数: 0 引用数: 0 h-index: 0机构: UH Cleveland Med Ctr, Ctr Human Genet, Cleveland, OH USA Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaHenderson, Lindsay B.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, 207 Perry Pkwy, Gaithersburg, MD USA Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaWillaert, Rebecca论文数: 0 引用数: 0 h-index: 0机构: GeneDx, 207 Perry Pkwy, Gaithersburg, MD USA Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaCastaldi, Christopher论文数: 0 引用数: 0 h-index: 0机构: Yale Ctr Genome Anal, West Haven, CT USA Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaTikhonova, Irina论文数: 0 引用数: 0 h-index: 0机构: Yale Ctr Genome Anal, West Haven, CT USA Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South Korea论文数: 引用数: h-index:机构:Mane, Shrikant论文数: 0 引用数: 0 h-index: 0机构: Yale Ctr Genome Anal, West Haven, CT USA Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaKim, Ki Joong论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Coll Med, Childrens Hosp, Seoul, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaHwang, Yong Seung论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Coll Med, Childrens Hosp, Seoul, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaLee, Seok-Geun论文数: 0 引用数: 0 h-index: 0机构: Kyung Hee Univ, Dept Sci Korean Med, Coll Korean Med, Canc Prevent Mat Dev Res Ctr, Seoul, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaSo, Insuk论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Physiol, Coll Med, Seoul, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaLim, Byung Chan论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Coll Med, Childrens Hosp, Seoul, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaChoi, Hee-Jung论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Biol Sci, Coll Nat Sci, Seoul, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaSeong, Jae Young论文数: 0 引用数: 0 h-index: 0机构: Korea Univ, Grad Sch Med, Seoul, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaShin, Yong Beom论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ, Dept Rehabil Med, Coll Med, Pusan, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaJung, Hosung论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med, Dept Anat, Brain Res Inst, Seoul 03722, South Korea Yonsei Univ, Coll Med, Brain Korea PLUS Project Med Sci 21, Seoul 03722, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaChae, Jong-Hee论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Coll Med, Childrens Hosp, Seoul, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South KoreaChoi, Murim论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South Korea Seoul Natl Univ, Dept Pediat, Coll Med, Childrens Hosp, Seoul, South Korea Seoul Natl Univ, Dept Biomed Sci, Coll Med, 103 Daehakro, Seoul 03080, South Korea
- [4] Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyEPILEPSIA, 2021, 62 (02) : E35 - E41Efthymiou, Stephanie论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, England UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandDutra-Clarke, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Pediat, Div Genet, Los Angeles, CA 90024 USA UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, England UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandKaiyrzhanov, Rauan论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, England UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandScala, Marcello论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandAlvi, Javeria Reza论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Lahore, Inst Child Hlth, Dept Pediat Neurol, Lahore, Pakistan UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandSultan, Tipu论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Lahore, Inst Child Hlth, Dept Pediat Neurol, Lahore, Pakistan UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandChristoforou, Marilena论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, England UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, England论文数: 引用数: h-index:机构:Mankad, Kshitij论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Neuroradiol, London, England UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandVona, Barbara论文数: 0 引用数: 0 h-index: 0机构: Eberhard Karls Univ Tubingen, Tubingen Hearing Res Ctr, Dept Otolaryngol Head & Neck Surg, Tubingen, Germany UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandRad, Aboulfazl论文数: 0 引用数: 0 h-index: 0机构: Eberhard Karls Univ Tubingen, Tubingen Hearing Res Ctr, Dept Otolaryngol Head & Neck Surg, Tubingen, Germany UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandSalpietro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandSacoto, Maria J. Guillen论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MA USA UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandZaki, Maha S.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Clin Genet Dept, Human Genet & Genome Res Div, Cairo, Egypt UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandGleeson, Joseph G.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Rady Childrens Inst Genom Med, Howard Hughes Med Inst, Dept Neurosci, San Diego, CA 92103 USA UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandCampeau, Philippe M.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Res Ctr, St Justine Univ Hosp Ctr, Montreal, PQ, Canada UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandRussell, Bianca E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Pediat, Div Genet, Los Angeles, CA 90024 USA UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, England UCL, Dept Neuromuscular Disorders, UCL Queen Sq Inst Neurol, London, England
- [5] Tourette syndrome and comorbid early-onset schizophreniaJOURNAL OF PSYCHOSOMATIC RESEARCH, 2009, 67 (06) : 515 - 523Kerbeshian, Jacob论文数: 0 引用数: 0 h-index: 0机构: Univ N Dakota, Dept Neurosci, Sch Med & Hlth Sci, Grand Forks, ND 58202 USA Altru Hlth Syst, Grand Forks, ND USA Univ N Dakota, Dept Pediat, Sch Med & Hlth Sci, Grand Forks, ND 58202 USAPeng, Chun-Zi论文数: 0 引用数: 0 h-index: 0机构: Univ N Dakota, Dept Pediat, Sch Med & Hlth Sci, Grand Forks, ND 58202 USA Univ N Dakota, Dept Pediat, Sch Med & Hlth Sci, Grand Forks, ND 58202 USABurd, Larry论文数: 0 引用数: 0 h-index: 0机构: Univ N Dakota, Dept Pediat, Sch Med & Hlth Sci, Grand Forks, ND 58202 USA Altru Hlth Syst, Grand Forks, ND USA Univ N Dakota, Dept Pediat, Sch Med & Hlth Sci, Grand Forks, ND 58202 USA
- [6] Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset ParkinsonismINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (04)Spagnoli, Carlotta论文数: 0 引用数: 0 h-index: 0机构: Presidio Ospedaliero St Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42122 Reggio Emilia, Italy Presidio Ospedaliero St Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42122 Reggio Emilia, ItalyFusco, Carlo论文数: 0 引用数: 0 h-index: 0机构: Presidio Ospedaliero St Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42122 Reggio Emilia, Italy Presidio Ospedaliero St Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42122 Reggio Emilia, ItalyPisani, Francesco论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Human Neurosci Dept, I-00185 Rome, Italy Presidio Ospedaliero St Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42122 Reggio Emilia, Italy
- [7] Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutationsEPILEPSIA, 2011, 52 (10) : 1828 - 1834Milh, Mathieu论文数: 0 引用数: 0 h-index: 0机构: Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, France Timone Children Hosp, APHM, CINAPSE, Pediat Neurol Dept, Marseille, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, FranceVilleneuve, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Timone Children Hosp, APHM, CINAPSE, Pediat Neurol Dept, Marseille, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, FranceChouchane, Mondher论文数: 0 引用数: 0 h-index: 0机构: Dijon Univ Hosp, Dept Pediat, Dijon, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, FranceKaminska, Anna论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Unit Clin Electrophysiol, Paris, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, FranceLaroche, Cecile论文数: 0 引用数: 0 h-index: 0机构: Limoges Univ Hosp, Dept Pediat, Limoges, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, FranceBarthez, Marie Anne论文数: 0 引用数: 0 h-index: 0机构: Tours Univ Hosp, Dept Pediat Neurol, Tours, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, FranceGitiaux, Cyril论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Dept Pediat Neurol, Paris, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, FranceBartoli, Celine论文数: 0 引用数: 0 h-index: 0机构: Toulon Gen Hosp, Dept Pediat, Toulon, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, FranceBorges-Correia, Ana论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Med Univ, Marseille, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, France论文数: 引用数: h-index:机构:Mignon-Ravix, Cecile论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Med Univ, Marseille, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, FranceCuberos, Helene论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Med Univ, Marseille, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, FranceChabrol, Brigitte论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Med Univ, Marseille, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, FranceVillard, Laurent论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Med Univ, Marseille, France Med Univ Marseille, U910, Fac Med, INSERM, F-13005 Marseille, France
- [8] Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to PhenotypesPEDIATRIC NEUROLOGY, 2015, 53 (02) : 119 - 129Mastrangelo, Mario论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Pediat Child Neurol & Psychiat, Div Pediat Neurol, I-00185 Rome, Italy Univ Roma La Sapienza, Dept Pediat Child Neurol & Psychiat, Div Pediat Neurol, I-00185 Rome, Italy
- [9] Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansionEPILEPSIA, 2016, 57 (01) : E12 - E17Allen, Nicholas M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, Ireland Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, IrelandConroy, Judith论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, Ireland Natl Univ Ireland Univ Coll Dublin, Acad Ctr Rare Dis, Sch Med & Med Sci, Dublin 4, Ireland Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, IrelandShahwan, Amre论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, Ireland Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, IrelandLynch, Bryan论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, Ireland Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, IrelandCorrea, Raony G.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Minas Gerais, Fac Med, Lab Clin Genom, Belo Horizonte, MG, Brazil Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, IrelandPena, Sergio D. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Minas Gerais, Fac Med, Lab Clin Genom, Belo Horizonte, MG, Brazil Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, IrelandMcCreary, Dara论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, Ireland Natl Univ Ireland Univ Coll Dublin, Acad Ctr Rare Dis, Sch Med & Med Sci, Dublin 4, Ireland Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, IrelandMagalhaes, Tiago R.论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Ireland Univ Coll Dublin, Acad Ctr Rare Dis, Sch Med & Med Sci, Dublin 4, Ireland Our Ladys Childrens Hosp Crumlin, Natl Childrens Res Ctr, Dublin 12, Ireland Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, IrelandEnnis, Sean论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Ireland Univ Coll Dublin, Acad Ctr Rare Dis, Sch Med & Med Sci, Dublin 4, Ireland Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, IrelandLynch, Sally A.论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Ireland Univ Coll Dublin, Acad Ctr Rare Dis, Sch Med & Med Sci, Dublin 4, Ireland Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, IrelandKing, Mary D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, Ireland Natl Univ Ireland Univ Coll Dublin, Acad Ctr Rare Dis, Sch Med & Med Sci, Dublin 4, Ireland Childrens Univ Hosp, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, Ireland
- [10] Genetic and Epileptic Features in Rett SyndromeYONSEI MEDICAL JOURNAL, 2012, 53 (03) : 495 - 500Kim, Hyo Jeong论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Div Pediat Neurol, Severance Childrens Hosp,Coll Med, Dept Pediat,Pediat Epilepsy Clin,Epilepsy Res Ins, Seoul 120752, South Korea Yonsei Univ, Div Pediat Neurol, Severance Childrens Hosp,Coll Med, Dept Pediat,Pediat Epilepsy Clin,Epilepsy Res Ins, Seoul 120752, South KoreaKim, Shin Hye论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Div Pediat Neurol, Severance Childrens Hosp,Coll Med, Dept Pediat,Pediat Epilepsy Clin,Epilepsy Res Ins, Seoul 120752, South Korea Yonsei Univ, Div Pediat Neurol, Severance Childrens Hosp,Coll Med, Dept Pediat,Pediat Epilepsy Clin,Epilepsy Res Ins, Seoul 120752, South KoreaKim, Heung Dong论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Div Pediat Neurol, Severance Childrens Hosp,Coll Med, Dept Pediat,Pediat Epilepsy Clin,Epilepsy Res Ins, Seoul 120752, South Korea Yonsei Univ, Div Pediat Neurol, Severance Childrens Hosp,Coll Med, Dept Pediat,Pediat Epilepsy Clin,Epilepsy Res Ins, Seoul 120752, South KoreaLee, Joon Soo论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Div Pediat Neurol, Severance Childrens Hosp,Coll Med, Dept Pediat,Pediat Epilepsy Clin,Epilepsy Res Ins, Seoul 120752, South Korea Yonsei Univ, Div Pediat Neurol, Severance Childrens Hosp,Coll Med, Dept Pediat,Pediat Epilepsy Clin,Epilepsy Res Ins, Seoul 120752, South KoreaLee, Young-Mock论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med, Dept Pediat, Gangnam Severance Hosp, Seoul 120752, South Korea Yonsei Univ, Div Pediat Neurol, Severance Childrens Hosp,Coll Med, Dept Pediat,Pediat Epilepsy Clin,Epilepsy Res Ins, Seoul 120752, South KoreaKoo, Kyo Yeon论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med, Dept Clin Genet, Seoul 120752, South Korea Yonsei Univ, Div Pediat Neurol, Severance Childrens Hosp,Coll Med, Dept Pediat,Pediat Epilepsy Clin,Epilepsy Res Ins, Seoul 120752, South Korea论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构: