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- [1] PHENOTYPIC SPECTRUM OF SPTAN1 ENCEPHALOPATHYEPILEPSIA, 2013, 54 : 102 - 103论文数: 引用数: h-index:机构:Akasaka, N.论文数: 0 引用数: 0 h-index: 0机构: Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, Japan Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, JapanWritzl, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Inst Med Genet, Ljubljana, Slovenia Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, JapanNonoda, Y.论文数: 0 引用数: 0 h-index: 0机构: Kitasato Univ Hosp, Dept Pediat, Sagamihara, Kanagawa, Japan Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, JapanHamdan, F. F.论文数: 0 引用数: 0 h-index: 0机构: CENUM, Montreal, PQ, Canada Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, JapanMichaud, J. L.论文数: 0 引用数: 0 h-index: 0机构: CENUM, Montreal, PQ, Canada Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, JapanOsaka, H.论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Neurol, Yokohama, Kanagawa, Japan Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, JapanShimono, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Occupat & Environm Hlth, Sch Med, Dept Pediat, Kitakyushu, Fukuoka 807, Japan Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, JapanKato, M.论文数: 0 引用数: 0 h-index: 0机构: Yamagata Univ, Fac Med, Dept Pediat, Yamagata 990, Japan Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, JapanMatsumoto, N.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 232, Japan Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, Japan论文数: 引用数: h-index:机构:
- [2] SPTAN1 encephalopathy: distinct phenotypes and genotypesJOURNAL OF HUMAN GENETICS, 2015, 60 (04) : 167 - 173论文数: 引用数: h-index:机构:Nakashima, Mitsuko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 232, Japan Nishi Niigata Chuo Natl Hosp, Dept Child Neurol, Niigata 9502085, Japan论文数: 引用数: h-index:机构:Gaik-Siew, Ch'ng论文数: 0 引用数: 0 h-index: 0机构: Kuala Lumpur Hosp, Dept Genet, Kuala Lumpur, Malaysia Nishi Niigata Chuo Natl Hosp, Dept Child Neurol, Niigata 9502085, JapanMiyata, Rie论文数: 0 引用数: 0 h-index: 0机构: Tokyo Kita Social Insurance Hosp, Dept Pediat, Tokyo, Japan Nishi Niigata Chuo Natl Hosp, Dept Child Neurol, Niigata 9502085, JapanRener-Primec, Zvonka论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Pediat Neurol, Ljubljana, Slovenia Nishi Niigata Chuo Natl Hosp, Dept Child Neurol, Niigata 9502085, JapanKato, Mitsuhiro论文数: 0 引用数: 0 h-index: 0机构: Yamagata Univ, Fac Med, Dept Pediat, Yamagata 990, Japan Nishi Niigata Chuo Natl Hosp, Dept Child Neurol, Niigata 9502085, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 232, Japan Nishi Niigata Chuo Natl Hosp, Dept Child Neurol, Niigata 9502085, Japan论文数: 引用数: h-index:机构:
- [3] SPTAN1 encephalopathy: distinct phenotypes and genotypesJournal of Human Genetics, 2015, 60 : 167 - 173Jun Tohyama论文数: 0 引用数: 0 h-index: 0机构: Nishi-Niigata Chuo National Hospital,Department of Child NeurologyMitsuko Nakashima论文数: 0 引用数: 0 h-index: 0机构: Nishi-Niigata Chuo National Hospital,Department of Child NeurologyShin Nabatame论文数: 0 引用数: 0 h-index: 0机构: Nishi-Niigata Chuo National Hospital,Department of Child NeurologyCh'ng Gaik-Siew论文数: 0 引用数: 0 h-index: 0机构: Nishi-Niigata Chuo National Hospital,Department of Child NeurologyRie Miyata论文数: 0 引用数: 0 h-index: 0机构: Nishi-Niigata Chuo National Hospital,Department of Child NeurologyZvonka Rener-Primec论文数: 0 引用数: 0 h-index: 0机构: Nishi-Niigata Chuo National Hospital,Department of Child NeurologyMitsuhiro Kato论文数: 0 引用数: 0 h-index: 0机构: Nishi-Niigata Chuo National Hospital,Department of Child NeurologyNaomichi Matsumoto论文数: 0 引用数: 0 h-index: 0机构: Nishi-Niigata Chuo National Hospital,Department of Child NeurologyHirotomo Saitsu论文数: 0 引用数: 0 h-index: 0机构: Nishi-Niigata Chuo National Hospital,Department of Child Neurology
- [4] Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophyBRAIN, 2017, 140 : 2322 - 2336Syrbe, Steffen论文数: 0 引用数: 0 h-index: 0机构: Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyHarms, Frederike L.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, Germany论文数: 引用数: h-index:机构:Montomoli, Martino论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, A Meyer Childrens Hosp, Neurosci Dept, Neurogenet & Neurobiol Unit & Labs, Florence, Italy Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyMuetze, Ulrike论文数: 0 引用数: 0 h-index: 0机构: Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyHelbig, Katherine L.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Dept Clin Genom, Aliso Viejo, CA USA Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyPolster, Tilman论文数: 0 引用数: 0 h-index: 0机构: Krankenhaus Mara GmbH, Bethel Epilepsy Ctr, Bielefeld, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyAlbrecht, Beate论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyBernbeck, Ulrich论文数: 0 引用数: 0 h-index: 0机构: Rems Murr Kliniken GmbH, Klin Kinder & Jugendmed, Winnenden, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, Germanyvan Binsbergen, Ellen论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3508 GA Utrecht, Netherlands Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyBiskup, Saskia论文数: 0 引用数: 0 h-index: 0机构: CeGaT Ctr Genom & Transcript GmbH, Tubingen, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, Germany论文数: 引用数: h-index:机构:Denecke, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyHeron, Benedicte论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ 06, Sorbonne Univ, GRC ConCer LD, Paris, France Hop Trousseau, AP HP, Serv Neurol Pediat, Paris, France Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyHeyne, Henrike O.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig Hosp & Clin, Inst Human Genet, Leipzig, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyHoffmann, Georg F.论文数: 0 引用数: 0 h-index: 0机构: Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyHornemann, Frauke论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig Hosp & Clin, Hosp Children & Adolescents, Dept Women & Child Hlth, Leipzig, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyMatsushige, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Yamaguchi Univ, Grad Sch Med, Dept Pediat, Ube, Yamaguchi, Japan Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyMatsuura, Ryuki论文数: 0 引用数: 0 h-index: 0机构: Saitama Childrens Med Ctr, Div Neurol, Saitama, Japan Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyKato, Mitsuhiro论文数: 0 引用数: 0 h-index: 0机构: Showa Univ, Sch Med, Dept Pediat, Shinagawa Ku, Tokyo, Japan Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyKorenke, G. Christoph论文数: 0 引用数: 0 h-index: 0机构: Klinikum Oldenburg, Zentrum Kinder & Jugendmed, Klin Neuropaediat Angeborene Stoffwechselerkranku, Oldenburg, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyKuechler, Alma论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyLaemmer, Constanze论文数: 0 引用数: 0 h-index: 0机构: St Bernward Krankenhaus, Hildesheim, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyMerkenschlager, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig Hosp & Clin, Hosp Children & Adolescents, Dept Women & Child Hlth, Leipzig, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyMignot, Cyril论文数: 0 引用数: 0 h-index: 0机构: AP HP, Dept Genet, Paris, France Ctr Reference Deficiences Intellectuelles Causes, Paris, France Grp Hosp Pitie Salpetriere, GRC UPMC Deficiences Intellectuelles & Autisme, Paris, France Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyRuf, Susanne论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Pediat Neurol & Dev Med, Tubingen, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyNakashima, Mitsuko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, Germany论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Pisano, Tiziana论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, A Meyer Childrens Hosp, Neurosci Dept, Neurogenet & Neurobiol Unit & Labs, Florence, Italy Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyTohyama, Jun论文数: 0 引用数: 0 h-index: 0机构: Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, Japan Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, Germany论文数: 引用数: h-index:机构:Werckx, Wendy论文数: 0 引用数: 0 h-index: 0机构: Jessa Hosp, Hasselt, Belgium Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyWickert, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Amedes, Human Genet, Hamburg, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, Germany论文数: 引用数: h-index:机构:Verbeek, Nienke E.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3508 GA Utrecht, Netherlands Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyMoller, Rikke S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyKoeleman, Bobby论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3508 GA Utrecht, Netherlands Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyDobyns, William B.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Neurol, Seattle, WA 98195 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyBattaglia, Domenica论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Child Neurol & Psychiat Unit, Rome, Italy Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyLemke, Johannes R.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig Hosp & Clin, Inst Human Genet, Leipzig, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyKutsche, Kerstin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, GermanyGuerrini, Renzo论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, A Meyer Childrens Hosp, Neurosci Dept, Neurogenet & Neurobiol Unit & Labs, Florence, Italy IRCCS Stella Maris Fdn, Pisa, Italy Univ Heidelberg Hosp, Ctr Paediat & Adolescent Med, Dept Gen Paediat, Div Child Neurol & Inherited Metab Dis, Heidelberg, Germany
- [5] Novel variants in SPTAN1 without epilepsy: An expansion of the phenotypeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (12) : 2768 - 2776Gartner, Valerie论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Off Clin Director, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Off Director, Bldg 10, Bethesda, MD 20892 USA NHGRI, Off Clin Director, Bethesda, MD 20892 USAMarkello, Thomas C.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Off Clin Director, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Off Director, Bldg 10, Bethesda, MD 20892 USA NHGRI, Off Clin Director, Bethesda, MD 20892 USAMacnamara, Ellen论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Off Clin Director, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Off Director, Bldg 10, Bethesda, MD 20892 USA NHGRI, Off Clin Director, Bethesda, MD 20892 USADe Biase, Andrea论文数: 0 引用数: 0 h-index: 0机构: RainDance Technol Inc, Billerica, MA USA NHGRI, Off Clin Director, Bethesda, MD 20892 USAThurm, Audrey论文数: 0 引用数: 0 h-index: 0机构: NIMH, Neurodev & Behav Phenotyping Serv, Off Clin Director, NIH, Bethesda, MD 20892 USA NHGRI, Off Clin Director, Bethesda, MD 20892 USAJoseph, Lisa论文数: 0 引用数: 0 h-index: 0机构: NIMH, Neurodev & Behav Phenotyping Serv, Off Clin Director, NIH, Bethesda, MD 20892 USA NHGRI, Off Clin Director, Bethesda, MD 20892 USABeggs, Alan论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA USA NHGRI, Off Clin Director, Bethesda, MD 20892 USASchmahmann, Jeremy D.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Lab Neuroanat & Cerebellar Neurobiol, Dept Neurol, Ataxia Unit,Cognit Behav Neurol Unit, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA NHGRI, Off Clin Director, Bethesda, MD 20892 USABerry, Gerard T.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA USA NHGRI, Off Clin Director, Bethesda, MD 20892 USAAnselm, Irina论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston, MA 02114 USA Boston Childrens Hosp, Dept Neurol, Boston, MA USA NHGRI, Off Clin Director, Bethesda, MD 20892 USABoslet, Emma论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Off Clin Director, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Off Director, Bldg 10, Bethesda, MD 20892 USA NHGRI, Off Clin Director, Bethesda, MD 20892 USATifft, Cynthia J.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Off Clin Director, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Off Director, Bldg 10, Bethesda, MD 20892 USA NHGRI, Off Clin Director, Bethesda, MD 20892 USAGahl, William A.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Off Clin Director, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Off Director, Bldg 10, Bethesda, MD 20892 USA NHGRI, Off Clin Director, Bethesda, MD 20892 USALee, Paul R.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Off Clin Director, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Off Director, Bldg 10, Bethesda, MD 20892 USA US FDA, Div Neurol Prod, Ctr Drug Evaluat & Res, Silver Spring, MD 20993 USA NHGRI, Off Clin Director, Bethesda, MD 20892 USA
- [6] A unique myopathic phenotype of novel SPTAN1 mutation without encephalopathy in siblingsNEUROLOGY, 2019, 92 (15)Anilkumar, Arayamparambil论文数: 0 引用数: 0 h-index: 0机构: Dept Child Hlth, Div Pediat Neurol, Columbia, MO USA Dept Child Hlth, Div Pediat Neurol, Columbia, MO USABinalsheikh, Ibrahim论文数: 0 引用数: 0 h-index: 0机构: Dept Child Hlth, Div Pediat Neurol, Columbia, MO USA Dept Child Hlth, Div Pediat Neurol, Columbia, MO USA论文数: 引用数: h-index:机构:
- [7] SPTAN1 mutation and diverse clinical presentationEPILEPSIA, 2024, 65 : 410 - 410Paprocka, J.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Silesia, Dept Pediat Neurol, Katowice, Poland Med Univ Silesia, Dept Pediat Neurol, Katowice, PolandFabin-Czepiel, K.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Silesia, Dept Pediat Neurol, Katowice, Poland Med Univ Silesia, Dept Pediat Neurol, Katowice, PolandKalinowska-Doman, A.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Silesia, Dept Pediat Neurol, Katowice, Poland Med Univ Silesia, Dept Pediat Neurol, Katowice, PolandSmigiel, R.论文数: 0 引用数: 0 h-index: 0机构: Wroclaw Med Univ, Wroclaw, Poland Med Univ Silesia, Dept Pediat Neurol, Katowice, PolandPloski, R.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Warsaw, Poland Med Univ Silesia, Dept Pediat Neurol, Katowice, Poland
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- [9] The ketogenic diet improves recently worsened focal epilepsyDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2009, 51 (04): : 276 - 281Villeneuve, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Henri Gastaut Hosp, Marseille, France Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Dept Neuropediat, F-75015 Paris, FrancePinton, Floeneuve论文数: 0 引用数: 0 h-index: 0机构: Kremlin Bicetre Hosp, Dept Neuropediat, Le Kremlin Bicetre, France Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Dept Neuropediat, F-75015 Paris, FranceBahi-Buisson, Nadia论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Dept Neuropediat, F-75015 Paris, France INSERM, U663, F-75654 Paris 13, France Paris Descartes Univ, Paris, France Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Dept Neuropediat, F-75015 Paris, FranceDulac, Olivier论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Dept Neuropediat, F-75015 Paris, France INSERM, U663, F-75654 Paris 13, France Paris Descartes Univ, Paris, France Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Dept Neuropediat, F-75015 Paris, FranceChiron, Catherine论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Dept Neuropediat, F-75015 Paris, France INSERM, U663, F-75654 Paris 13, France Paris Descartes Univ, Paris, France Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Dept Neuropediat, F-75015 Paris, FranceNabbout, Rima论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Dept Neuropediat, F-75015 Paris, France INSERM, U663, F-75654 Paris 13, France Paris Descartes Univ, Paris, France Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Dept Neuropediat, F-75015 Paris, France
- [10] KETOGENIC DIET IMPROVES RECENTLY WORSENED FOCAL EPILEPSYEPILEPSIA, 2008, 49 : 122 - 123Nabbout, Rima论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Paris, France INSERM, U663, Paris, France Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Paris, FranceVilleneuve, N.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Paris, France Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Paris, FrancePinton, F.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Paris, France Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Paris, FranceBahi-Buisson, N.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Paris, France INSERM, U663, Paris, France Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Paris, FranceChiron, C.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Paris, France INSERM, U663, Paris, France Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Paris, FranceDulac, O.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Paris, France INSERM, U663, Paris, France Hop Necker Enfants Malad, APHP, Ctr Reference Epilepsies Rares, Paris, France