共 50 条
- [21] TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsionsNEUROLOGICAL SCIENCES, 2022, 43 (10) : 6095 - 6099Wang, Huan论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Dept Neurol, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R China Nanchang Univ, Dept Neurol, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R ChinaHuang, Pengcheng论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Dept Neurol, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R China Nanchang Univ, Dept Neurol, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R ChinaZhu, Min论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Dept Neurol, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R China Nanchang Univ, Dept Med Genet, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R China Nanchang Univ, Dept Neurol, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R ChinaFang, Xin论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Dept Neurol, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R China Nanchang Univ, Dept Neurol, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R ChinaWu, Chensi论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Dept Neurol, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R China Nanchang Univ, Dept Neurol, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R ChinaHong, Daojun论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Dept Neurol, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R China Nanchang Univ, Dept Med Genet, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R China Nanchang Univ, Dept Neurol, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R China
- [22] Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsionsFrontiers of Medicine, 2021, 15 (06) : 877 - 886Yulan Chen论文数: 0 引用数: 0 h-index: 0机构: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of MedicineDianfu Chen论文数: 0 引用数: 0 h-index: 0机构: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of MedicineShaoyun Zhao论文数: 0 引用数: 0 h-index: 0机构: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of MedicineGonglu Liu论文数: 0 引用数: 0 h-index: 0机构: Department of Neurology, Huashan Hospital,Shanghai Medical College, Fudan Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of MedicineHongfu Li论文数: 0 引用数: 0 h-index: 0机构: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of MedicineZhiYing Wu论文数: 0 引用数: 0 h-index: 0机构: Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine
- [23] Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsionsFrontiers of Medicine, 2021, 15 : 877 - 886Yulan Chen论文数: 0 引用数: 0 h-index: 0机构: Zhejiang University School of Medicine,Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang ProvinceDianfu Chen论文数: 0 引用数: 0 h-index: 0机构: Zhejiang University School of Medicine,Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang ProvinceShaoyun Zhao论文数: 0 引用数: 0 h-index: 0机构: Zhejiang University School of Medicine,Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang ProvinceGonglu Liu论文数: 0 引用数: 0 h-index: 0机构: Zhejiang University School of Medicine,Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang ProvinceHongfu Li论文数: 0 引用数: 0 h-index: 0机构: Zhejiang University School of Medicine,Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhi-Ying Wu论文数: 0 引用数: 0 h-index: 0机构: Zhejiang University School of Medicine,Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province
- [24] Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile ConvulsionsCELL REPORTS, 2012, 1 (01): : 2 - 12Lee, Hsien-Yang论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Neurol, San Francisco, CA 94158 USA UCSF, Dept Neurol, San Francisco, CA 94158 USAHuang, Yong论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Neurol, San Francisco, CA 94158 USA Howard Hughes Med Inst, San Francisco, CA 94158 USA UCSF, Dept Neurol, San Francisco, CA 94158 USABruneau, Nadine论文数: 0 引用数: 0 h-index: 0机构: Univ Aix Marseille 2, INSERM, Inst Neurobiol Mediterranee, INMED U901, F-13273 Marseille 9, France UCSF, Dept Neurol, San Francisco, CA 94158 USARoll, Patrice论文数: 0 引用数: 0 h-index: 0机构: Univ Aix Marseille 2, INSERM, UMR S910, F-13385 Marseille 05, France UCSF, Dept Neurol, San Francisco, CA 94158 USARoberson, Elisha D. O.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Genet, Div Human Genet, St Louis, MO 63110 USA UCSF, Dept Neurol, San Francisco, CA 94158 USAHermann, Mark论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Neurol, San Francisco, CA 94158 USA UCSF, Dept Neurol, San Francisco, CA 94158 USAQuinn, Emily论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Neurol, San Francisco, CA 94158 USA Howard Hughes Med Inst, San Francisco, CA 94158 USA UCSF, Dept Neurol, San Francisco, CA 94158 USAMaas, James论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Neurol, San Francisco, CA 94158 USA UCSF, Dept Neurol, San Francisco, CA 94158 USAEdwards, Robert论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Neurol, San Francisco, CA 94158 USA UCSF, Dept Neurol, San Francisco, CA 94158 USAAshizawa, Tetsuo论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Dept Neurol, Gainesville, FL 32611 USA UCSF, Dept Neurol, San Francisco, CA 94158 USABaykan, Betul论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Neurol, TR-34390 Istanbul, Turkey UCSF, Dept Neurol, San Francisco, CA 94158 USABhatia, Kailash论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London WC1N 3BG, England UCSF, Dept Neurol, San Francisco, CA 94158 USABressman, Susan论文数: 0 引用数: 0 h-index: 0机构: Beth Israel Deaconess Med Ctr, Dept Neurol, New York, NY 10003 USA UCSF, Dept Neurol, San Francisco, CA 94158 USABruno, Michiko K.论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Neurol, San Francisco, CA 94158 USA Queens Med Ctr, Dept Neurol, Honolulu, HI 96813 USA UCSF, Dept Neurol, San Francisco, CA 94158 USABrunt, Ewout R.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, NL-9713 GZ Groningen, Netherlands UCSF, Dept Neurol, San Francisco, CA 94158 USACaraballo, Roberto论文数: 0 引用数: 0 h-index: 0机构: Juan P Garrahan Pediat Hosp, Dept Neurol, RA-1245 Buenos Aires, DF, Argentina UCSF, Dept Neurol, San Francisco, CA 94158 USAEchenne, Bernard论文数: 0 引用数: 0 h-index: 0机构: Hop Gui De Chauliac, Serv Neuropediat, F-34295 Montpellier, France UCSF, Dept Neurol, San Francisco, CA 94158 USAFejerman, Natalio论文数: 0 引用数: 0 h-index: 0机构: Juan P Garrahan Pediat Hosp, Dept Neurol, RA-1245 Buenos Aires, DF, Argentina UCSF, Dept Neurol, San Francisco, CA 94158 USAFrucht, Steve论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Med Ctr, Movement Disorders Ctr, New York, NY 10029 USA UCSF, Dept Neurol, San Francisco, CA 94158 USAGurnett, Christina A.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA UCSF, Dept Neurol, San Francisco, CA 94158 USAHirsch, Edouard论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Serv Neurol, F-67091 Strasbourg, France UCSF, Dept Neurol, San Francisco, CA 94158 USAHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London WC1N 3BG, England UCSF, Dept Neurol, San Francisco, CA 94158 USAJankovic, Joseph论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Parkinsons Dis Ctr & Movement Disorders Clin, Dept Neurol, Houston, TX 77030 USA UCSF, Dept Neurol, San Francisco, CA 94158 USALee, Wei-Ling论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurosci, Singapore 308433, Singapore UCSF, Dept Neurol, San Francisco, CA 94158 USALynch, David R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA UCSF, Dept Neurol, San Francisco, CA 94158 USAMohammed, Shehla论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, Clin Genet, London SE1 9RT, England UCSF, Dept Neurol, San Francisco, CA 94158 USAMueller, Ulrich论文数: 0 引用数: 0 h-index: 0机构: Univ Giessen, Inst Humangenet, D-35392 Giessen, Germany UCSF, Dept Neurol, San Francisco, CA 94158 USANespeca, Mark P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Rady Childrens Hosp San Diego, Dept Neurosci, Div Pediat Neurol, San Diego, CA 92123 USA UCSF, Dept Neurol, San Francisco, CA 94158 USARenner, David论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Neurol, Salt Lake City, UT 84132 USA UCSF, Dept Neurol, San Francisco, CA 94158 USARochette, Jacques论文数: 0 引用数: 0 h-index: 0机构: Univ Picardie Jules Verne, INSERM, UMR 925, Serv Genet, F-80036 Amiens, France UCSF, Dept Neurol, San Francisco, CA 94158 USARudolf, Gabrielle论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Serv Neurol, F-67091 Strasbourg, France UCSF, Dept Neurol, San Francisco, CA 94158 USASaiki, Shinji论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Dept Neurol, Kanazawa, Ishikawa 9200293, Japan UCSF, Dept Neurol, San Francisco, CA 94158 USA论文数: 引用数: h-index:机构:Swoboda, Kathryn J.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Neurol, Salt Lake City, UT 84132 USA UCSF, Dept Neurol, San Francisco, CA 94158 USATucker, Sam论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA UCSF, Dept Neurol, San Francisco, CA 94158 USAWood, Nicholas论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London WC1N 3BG, England UCSF, Dept Neurol, San Francisco, CA 94158 USAHanna, Michael论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London WC1N 3BG, England UCSF, Dept Neurol, San Francisco, CA 94158 USABowcock, Anne M.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Genet, Div Human Genet, St Louis, MO 63110 USA UCSF, Dept Neurol, San Francisco, CA 94158 USASzepetowski, Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Aix Marseille 2, INSERM, Inst Neurobiol Mediterranee, INMED U901, F-13273 Marseille 9, France UCSF, Dept Neurol, San Francisco, CA 94158 USAFu, Ying-Hui论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Neurol, San Francisco, CA 94158 USA UCSF, Dept Neurol, San Francisco, CA 94158 USAPtacek, Louis J.论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Neurol, San Francisco, CA 94158 USA Howard Hughes Med Inst, San Francisco, CA 94158 USA UCSF, Dept Neurol, San Francisco, CA 94158 USA
- [25] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritisBRAIN & DEVELOPMENT, 2013, 35 (06): : 524 - 530论文数: 引用数: h-index:机构:Yasumoto, Sawa论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanIhara, Yukiko论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan Fukuoka Univ, Cent Res Inst Mol Pathomech Epilepsy, Fukuoka 81401, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanInoue, Takahito论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan论文数: 引用数: h-index:机构:Nakamura, Noriko论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanOhfu, Masaharu论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanYamashita, Yushiro论文数: 0 引用数: 0 h-index: 0机构: Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka 830, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanTakatsuka, Hideo论文数: 0 引用数: 0 h-index: 0机构: Mimuro Hosp, Div Pediat, Ikoma, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanTaga, Toshiaki论文数: 0 引用数: 0 h-index: 0机构: Nagahama City Hosp, Dept Pediat, Nagahama, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanMiyata, Rie论文数: 0 引用数: 0 h-index: 0机构: Tokyo Kita Social Insurance Hosp, Dept Pediat, Tokyo, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanIto, Masahiro论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Bokuto Gen Hosp, Dept Pediat, Tokyo, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanTsuchiya, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Osaka Med Ctr, Dept Neonatol, Izumi, Japan Res Inst Maternal & Child Hlth, Izumi, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanMatsuoka, Taro论文数: 0 引用数: 0 h-index: 0机构: Toyonaka City Hosp, Dept Pediat, Toyonaka, Osaka, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanKitao, Tetsuya论文数: 0 引用数: 0 h-index: 0机构: Nakano Childrens Hosp, Osaka, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanMurakami, Kiyotaka论文数: 0 引用数: 0 h-index: 0机构: Nakano Childrens Hosp, Osaka, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanLee, Wang-Tso论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, Taiwan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanKaneko, Sunao论文数: 0 引用数: 0 h-index: 0机构: Hirosaki Univ, Sch Med, Dept Neuropsychiat, Hirosaki, Aomori 036, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanHirose, Shinichi论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan Fukuoka Univ, Cent Res Inst Mol Pathomech Epilepsy, Fukuoka 81401, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan
- [26] A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizuresCOLD SPRING HARBOR MOLECULAR CASE STUDIES, 2018, 4 (01):Lu, Jacqueline G.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA Gunn High Sch, Palo Alto, CA 94306 USA Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USABishop, Juliet论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Sch Med, Baltimore, MD 21205 USA Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USACheyette, Sarah论文数: 0 引用数: 0 h-index: 0机构: Palo Alto Med Fdn, Palo Alto, CA 94306 USA Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USAZhulin, Igor B.论文数: 0 引用数: 0 h-index: 0机构: Oak Ridge Natl Lab, Computat Sci & Engn Div, Oak Ridge, TN 37831 USA Univ Tennessee, Dept Microbiol, Knoxville, TN 37914 USA Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USAGuo, Su论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Programs Biol Sci, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USASobreira, Nara论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Sch Med, Baltimore, MD 21205 USA Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USABrenner, Steven E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA Univ Calif Berkeley, Dept Computat Biol, Berkeley, CA 94720 USA Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA
- [27] Paroxysmal dyskinesia, epilepsy and febrile convulsions in a large Belgian family: Clinical features, EEG and imaging findingsEPILEPSIA, 2005, 46 : 94 - 95Dedeken, P论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Gasthuisberg, B-3000 Louvain, BelgiumSuls, A论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Gasthuisberg, B-3000 Louvain, BelgiumClaeys, K论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Gasthuisberg, B-3000 Louvain, BelgiumDe Jonghe, P论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Gasthuisberg, B-3000 Louvain, BelgiumVan Paesschen, W论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Gasthuisberg, B-3000 Louvain, Belgium
- [28] Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A MutationANNALS OF NEUROLOGY, 2016, 79 (03) : 428 - 436Gardella, Elena论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark Univ South Denmark, Inst Reg Hlth Res, Odense, Denmark Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkBecker, Felicitas论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkMoller, Rikke S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark Univ South Denmark, Inst Reg Hlth Res, Odense, Denmark Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkSchubert, Julian论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkLemke, Johannes R.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Univ Hosp, Inst Human Genet, D-04109 Leipzig, Germany Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkLarsen, Line H. G.论文数: 0 引用数: 0 h-index: 0机构: Amplexa Genet, Odense, Denmark Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkEiberg, Hans论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Cellular & Mol Med, RC LINK, Copenhagen, Denmark Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Altmueller, Janine论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkSyrbe, Steffen论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Hosp Children & Adolescents, Dept Woman & Child Hlth, D-04109 Leipzig, Germany Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkMerkenschlager, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Hosp Children & Adolescents, Dept Woman & Child Hlth, D-04109 Leipzig, Germany Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkBast, Thomas论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Kork, Kork, Germany Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkSteinhoff, Bernhard论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Kork, Kork, Germany Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkNuernberg, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkMang, Yuan论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Cellular & Mol Med, Wilhelm Johannsen Ctr Funct Genome Res, Copenhagen, Denmark Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkMoller, Louise Bakke论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkGellert, Pia论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkHeron, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Univ S Australia, Sch Pharm & Med Sci, Epilepsy Res Program, Adelaide, SA 5001, Australia Univ S Australia, Sansom Inst Hlth Res, Adelaide, SA 5001, Australia Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkDibbens, Leanne M.论文数: 0 引用数: 0 h-index: 0机构: Univ S Australia, Sch Pharm & Med Sci, Epilepsy Res Program, Adelaide, SA 5001, Australia Univ S Australia, Sansom Inst Hlth Res, Adelaide, SA 5001, Australia Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkWeckhuysen, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, VIB Dept Mol Genet, Neurogenet Grp, B-2020 Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2020 Antwerp, Belgium Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkDahl, Hans Atli论文数: 0 引用数: 0 h-index: 0机构: Amplexa Genet, Odense, Denmark Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkBiskup, Saskia论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark论文数: 引用数: h-index:机构:Hjalgrim, Helle论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark Univ South Denmark, Inst Reg Hlth Res, Odense, Denmark Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkLerche, Holger论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkBeniczky, Sandor论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark Aarhus Univ, Dept Clin Neurophysiol, Aarhus, Denmark Danish Epilepsy Ctr Filadelfia, Dianalund, DenmarkWeber, Yvonne G.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark
- [29] Benign infantile seizures and paroxysmal dyskinesia: A well-defined familial syndromeSEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2011, 20 (09): : 686 - 691Espeche, Alberto论文数: 0 引用数: 0 h-index: 0机构: Hosp Publ Materno Infantil, Salta, Argentina Hosp Publ Materno Infantil, Salta, ArgentinaCersosimo, Ricardo论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Pediat JP Garrahan, Buenos Aires, DF, Argentina Hosp Publ Materno Infantil, Salta, ArgentinaHoracio Caraballo, Roberto论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Pediat JP Garrahan, Buenos Aires, DF, Argentina Hosp Publ Materno Infantil, Salta, Argentina
- [30] Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: A case seriesJournal of Medical Case Reports, 8 (1)Matsumoto N.论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, Asahikawa Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, AsahikawaTakahashi S.论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, Asahikawa Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, AsahikawaOkayama A.论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, Asahikawa Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, AsahikawaAraki A.论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, Asahikawa Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, AsahikawaAzuma H.论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, Asahikawa Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, Asahikawa