共 50 条
- [31] Early onset epileptic encephalopathy caused by novel compound heterozygous mutation of WWOX gene[J]. INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2020, 80 (02) : 157 - 161Su, Tangfeng论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, Wuhan 430030, Hubei, Peoples R ChinaYan, Yu论文数: 0 引用数: 0 h-index: 0机构: Peoples Hosp Dongxihu Dist, Dept Neurol, Wuhan, Peoples R China Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, Wuhan 430030, Hubei, Peoples R ChinaXu, Shuang论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, Wuhan 430030, Hubei, Peoples R ChinaZhang, Ke论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, Wuhan 430030, Hubei, Peoples R ChinaXu, Sanqing论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Pediat, Wuhan 430030, Hubei, Peoples R China
- [32] A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy[J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (04)Vetri, Luigi论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Oasi Res Inst, Troina, Italy Univ Palermo, Dept Sci Hlth Promot & Mother & Child Care G DAle, Palermo, Italy IRCCS, Oasi Res Inst, Troina, ItalyCali, Francesco论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Oasi Res Inst, Troina, Italy IRCCS, Oasi Res Inst, Troina, ItalyVinci, Mirella论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Oasi Res Inst, Troina, Italy IRCCS, Oasi Res Inst, Troina, ItalyAmato, Carmelo论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Oasi Res Inst, Troina, Italy IRCCS, Oasi Res Inst, Troina, Italy论文数: 引用数: h-index:机构:Granata, Tiziana论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Dept Pediat Neurosci, Milan, Italy IRCCS, Oasi Res Inst, Troina, ItalyFreri, Elena论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Dept Pediat Neurosci, Milan, Italy IRCCS, Oasi Res Inst, Troina, ItalySolazzi, Roberta论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Dept Pediat Neurosci, Milan, Italy IRCCS, Oasi Res Inst, Troina, ItalyRomano, Valentino论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dept Biol Chem & Pharmaceut Sci & Technol, Palermo, Italy IRCCS, Oasi Res Inst, Troina, ItalyElia, Maurizio论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Oasi Res Inst, Troina, Italy IRCCS, Oasi Res Inst, Troina, Italy
- [33] STAMBP gene mutation causing microcephaly-capillary malformation syndrome: a recognizable developmental and epileptic encephalopathy[J]. EPILEPTIC DISORDERS, 2022, 24 (03) : 602 - 605Anand, Vaishakh论文数: 0 引用数: 0 h-index: 0机构: Amrita Inst Med Sci, Dept Pediat Neurol, Kochi, Kerala, India All India Inst Med Sci, Child Neurol Div, Dept Pediat, New Delhi, India Amrita Inst Med Sci, Dept Pediat Neurol, Kochi, Kerala, IndiaAggarwal, Bhawana论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Div Med Genet, Dept Pediat, New Delhi, India Amrita Inst Med Sci, Dept Pediat Neurol, Kochi, Kerala, IndiaJauhari, Prashant论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Child Neurol Div, Dept Pediat, New Delhi, India Amrita Inst Med Sci, Dept Pediat Neurol, Kochi, Kerala, IndiaKumar, Manoj论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Biophys, New Delhi, India Amrita Inst Med Sci, Dept Pediat Neurol, Kochi, Kerala, IndiaGupta, Neerja论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Div Med Genet, Dept Pediat, New Delhi, India Amrita Inst Med Sci, Dept Pediat Neurol, Kochi, Kerala, IndiaKumar, Atin论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Radiodiag, New Delhi, India Amrita Inst Med Sci, Dept Pediat Neurol, Kochi, Kerala, IndiaGulati, Sheffali论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Child Neurol Div, Dept Pediat, New Delhi, India Amrita Inst Med Sci, Dept Pediat Neurol, Kochi, Kerala, IndiaKabra, Madhulika论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Div Med Genet, Dept Pediat, New Delhi, India Amrita Inst Med Sci, Dept Pediat Neurol, Kochi, Kerala, India
- [34] The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy[J]. FRONTIERS IN NEUROLOGY, 2018, 9Ko, Ara论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Epilepsy Res Inst, Div Pediat Neurol, Dept Pediat,Severance Childrens Hosp,Coll Med, Seoul, South Korea Yonsei Univ, Epilepsy Res Inst, Div Pediat Neurol, Dept Pediat,Severance Childrens Hosp,Coll Med, Seoul, South KoreaJung, Da E.论文数: 0 引用数: 0 h-index: 0机构: Ajou Univ, Dept Pediat, Sch Med, Suwon, South Korea Yonsei Univ, Epilepsy Res Inst, Div Pediat Neurol, Dept Pediat,Severance Childrens Hosp,Coll Med, Seoul, South KoreaKim, Se H.论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Epilepsy Res Inst, Div Pediat Neurol, Dept Pediat,Severance Childrens Hosp,Coll Med, Seoul, South Korea Yonsei Univ, Epilepsy Res Inst, Div Pediat Neurol, Dept Pediat,Severance Childrens Hosp,Coll Med, Seoul, South KoreaKang, Noon-Chul论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Epilepsy Res Inst, Div Pediat Neurol, Dept Pediat,Severance Childrens Hosp,Coll Med, Seoul, South Korea Yonsei Univ, Epilepsy Res Inst, Div Pediat Neurol, Dept Pediat,Severance Childrens Hosp,Coll Med, Seoul, South KoreaLee, Joon S.论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Epilepsy Res Inst, Div Pediat Neurol, Dept Pediat,Severance Childrens Hosp,Coll Med, Seoul, South Korea Yonsei Univ, Epilepsy Res Inst, Div Pediat Neurol, Dept Pediat,Severance Childrens Hosp,Coll Med, Seoul, South KoreaLee, Seung T.论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Dept Lab Med, Severance Hosp, Coll Med, Seoul, South Korea Yonsei Univ, Epilepsy Res Inst, Div Pediat Neurol, Dept Pediat,Severance Childrens Hosp,Coll Med, Seoul, South KoreaChoi, Jong R.论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Dept Lab Med, Severance Hosp, Coll Med, Seoul, South Korea Yonsei Univ, Epilepsy Res Inst, Div Pediat Neurol, Dept Pediat,Severance Childrens Hosp,Coll Med, Seoul, South Korea论文数: 引用数: h-index:机构:
- [35] SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy[J]. NEUROLOGY, 2019, 92 (02) : E96 - E107Vlaskamp, Danique R. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, Groningen, Netherlands Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaShaw, Benjamin J.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaBurgess, Rosemary论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaMei, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, A Meyer Childrens Hosp, Pediat Neurol Unit & Labs, Florence, Italy Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaMontomoli, Martino论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, A Meyer Childrens Hosp, Pediat Neurol Unit & Labs, Florence, Italy Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaXie, Han论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China Peking Univ, Hosp 1, Pediat Epilepsy Ctr, Beijing, Peoples R China Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaMyers, Candace T.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaBennett, Mark F.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Walter & Eliza Hall Inst Med Res, Populat Hlth & Immun Div, Melbourne, Vic, Australia Univ Melbourne, Dept Med Biol, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaXiangWei, Wenshu论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China Peking Univ, Hosp 1, Pediat Epilepsy Ctr, Beijing, Peoples R China Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaWilliams, Danielle论文数: 0 引用数: 0 h-index: 0机构: Caulfield, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaMaas, Saskia M.论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaBrooks, Alice S.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaMancini, Grazia M. S.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australiavan de Laar, Ingrid M. B. H.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australiavan Hagen, Johanna M.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaWare, Tyson L.论文数: 0 引用数: 0 h-index: 0机构: Launceston Gen Hosp, Womens & Childrens Serv, Tasmanian Hlth Serv, Launceston, Tas, Australia Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaWebster, Richard I.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, TY Nelson Dept Neurol & Neurosurg, Sydney, NSW, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaMalone, Stephen论文数: 0 引用数: 0 h-index: 0机构: Lady Cilento Childrens Hosp, Dept Neurosci, Brisbane, Qld, Australia Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaBerkovic, Samuel F.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaKalnins, Renate M.论文数: 0 引用数: 0 h-index: 0机构: Austin Hosp, Dept Anat Pathol, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaSicca, Federico论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Pisa, Italy Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaKorenke, G. Christoph论文数: 0 引用数: 0 h-index: 0机构: Klinikum Oldenburg, Zentrum Kinder & Jugendmed, Klin Neuropadiatrie Angebore Stoffwechselerkranku, Oldenburg, Germany Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australiavan Ravenswaaij-Arts, Conny M. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaHildebrand, Michael S.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaMefford, Heather C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaJiang, Yuwu论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China Peking Univ, Hosp 1, Pediat Epilepsy Ctr, Beijing, Peoples R China Beijing Inst BrainDisorders, Ctr Epilepsy, Beijing, Peoples R China Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaGuerrini, Renzo论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, A Meyer Childrens Hosp, Neurogenet & Neurobiol Unit & Labs, Pediat Neurol, Florence, Italy IRCCS Stella Maris Fdn, Pisa, Italy Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, AustraliaScheffer, Ingrid E.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia Florey Inst Neurosci & Mental Hlth, Parkville, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia
- [36] Identification of a novel PRUNE1 gene mutation in a patient with severe neurodevelopmental disorder characterized by hypotonia and epileptic encephalopathy[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 441 - 441Lazaros, L.论文数: 0 引用数: 0 h-index: 0机构: Clin Genet & Res, Genesis Genoma Lab, Genet Diag, Athens, Greece Clin Genet & Res, Genesis Genoma Lab, Genet Diag, Athens, GreecePalaiologou, D.论文数: 0 引用数: 0 h-index: 0机构: Clin Genet & Res, Genesis Genoma Lab, Genet Diag, Athens, Greece Clin Genet & Res, Genesis Genoma Lab, Genet Diag, Athens, GreeceRomito, A.论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, Rostock, Germany Clin Genet & Res, Genesis Genoma Lab, Genet Diag, Athens, GreecePantou, A.论文数: 0 引用数: 0 h-index: 0机构: Clin Genet & Res, Genesis Genoma Lab, Genet Diag, Athens, Greece Clin Genet & Res, Genesis Genoma Lab, Genet Diag, Athens, GreeceMarais, A.论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, Rostock, Germany Clin Genet & Res, Genesis Genoma Lab, Genet Diag, Athens, GreeceKanavakis, E.论文数: 0 引用数: 0 h-index: 0机构: Clin Genet & Res, Genesis Genoma Lab, Genet Diag, Athens, Greece Clin Genet & Res, Genesis Genoma Lab, Genet Diag, Athens, Greece
- [37] A Case of Early Infantile Epileptic Encephalopathy Due to KCNQ2 Gene Mutation Presenting With Episodes of Hiccups[J]. CUREUS JOURNAL OF MEDICAL SCIENCE, 2022, 14 (12)Alan, Serdar论文数: 0 引用数: 0 h-index: 0机构: Kirikkale Univ, Fac Med, Dept Pediat, Kirikkale, Turkey Kirikkale Univ, Fac Med, Dept Pediat, Kirikkale, TurkeyVural, Sevde Nur论文数: 0 引用数: 0 h-index: 0机构: Kirikkale Univ, Fac Med, Dept Pediat, Kirikkale, Turkey Kirikkale Univ, Fac Med, Dept Pediat, Kirikkale, TurkeyAliefendioglu, Didem论文数: 0 引用数: 0 h-index: 0机构: Kirikkale Univ, Fac Med, Dept Pediat, Kirikkale, Turkey Kirikkale Univ, Fac Med, Dept Pediat, Kirikkale, TurkeySenbil, Nesrin论文数: 0 引用数: 0 h-index: 0机构: Kirikkale Univ, Fac Med, Dept Pediat, Kirikkale, Turkey Kirikkale Univ, Fac Med, Dept Pediat, Kirikkale, Turkey
- [38] RARS1-related developmental and epileptic encephalopathy[J]. EPILEPSIA OPEN, 2023, 8 (03) : 867 - 876Wan, Lin论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Med Ctr 1, Dept Pediat, Beijing, Peoples R China Med Sch Chinese Peoples Liberat Army, Dept Pediat, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R ChinaYu, Dan论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, Dept Pediat, West China Hosp 2, Chengdu, Peoples R China Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R ChinaLi, Zhichao论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Med Ctr 1, Dept Pediat, Beijing, Peoples R China Med Sch Chinese Peoples Liberat Army, Dept Pediat, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R ChinaLiu, Xinting论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Med Ctr 1, Dept Pediat, Beijing, Peoples R China Med Sch Chinese Peoples Liberat Army, Dept Pediat, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R ChinaLiang, Yan论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Med Ctr 1, Dept Pediat, Beijing, Peoples R China Med Sch Chinese Peoples Liberat Army, Dept Pediat, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R ChinaYan, Huimin论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Med Ctr 1, Dept Pediat, Beijing, Peoples R China Med Sch Chinese Peoples Liberat Army, Dept Pediat, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R ChinaZhu, Gang论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Med Ctr 1, Dept Pediat, Beijing, Peoples R China Med Sch Chinese Peoples Liberat Army, Dept Pediat, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R ChinaZhang, Bo论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, ICCTR Biostat & Res Design Ctr, Dept Neurol, Boston, MA USA Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R ChinaYang, Guang论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Med Ctr 1, Dept Pediat, Beijing, Peoples R China Med Sch Chinese Peoples Liberat Army, Dept Pediat, Beijing, Peoples R China Southern Med Univ, Sch Clin Med 2, Dept Pediat, Guangzhou, Peoples R China Peoples Liberat Army Gen Hosp, Dept Pediat, Med Ctr 7, Beijing 100000, Peoples R China Peoples Liberat Army Gen Hosp, Dept Pediat, Seventh Med Ctr, Beijing, Peoples R China
- [39] Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant[J]. FRONTIERS IN PEDIATRICS, 2021, 9Zhang, Pingli论文数: 0 引用数: 0 h-index: 0机构: Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R China Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R ChinaCui, Di论文数: 0 引用数: 0 h-index: 0机构: Running Gene Inc, Beijing, Peoples R China Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R ChinaLiao, Peiyuan论文数: 0 引用数: 0 h-index: 0机构: Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R China Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R ChinaYuan, Xiang论文数: 0 引用数: 0 h-index: 0机构: Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R China Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R ChinaYang, Nuan论文数: 0 引用数: 0 h-index: 0机构: Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R China Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R ChinaZhen, Yuanyuan论文数: 0 引用数: 0 h-index: 0机构: Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R China Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R ChinaYang, Jing论文数: 0 引用数: 0 h-index: 0机构: Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R China Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R ChinaHuang, Qikun论文数: 0 引用数: 0 h-index: 0机构: Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R China Shangdong Univ, Qilu Hosp Qingdao, Cheeloo Coll Med, Dept Pediat, Qingdao, Peoples R China
- [40] Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review[J]. NEUROLOGICAL SCIENCES, 2023, 44 (10) : 3495 - 3498Ji, Caihong论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 1, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310003, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 1, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310003, Peoples R ChinaZhao, Jiajia论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 1, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310003, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 1, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310003, Peoples R ChinaZhang, Jianfang论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 1, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310003, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 1, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310003, Peoples R ChinaWang, Kang论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 1, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310003, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 1, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310003, Peoples R China