共 50 条
- [21] A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case reportBMC Pediatrics, 19Kao-Min Lin论文数: 0 引用数: 0 h-index: 0机构: Xiamen Humanity Hospital,Department of Functional NeurosurgeryGeng Su论文数: 0 引用数: 0 h-index: 0机构: Xiamen Humanity Hospital,Department of Functional NeurosurgeryFengpeng Wang论文数: 0 引用数: 0 h-index: 0机构: Xiamen Humanity Hospital,Department of Functional NeurosurgeryXiaobin Zhang论文数: 0 引用数: 0 h-index: 0机构: Xiamen Humanity Hospital,Department of Functional NeurosurgeryYuanqing Wang论文数: 0 引用数: 0 h-index: 0机构: Xiamen Humanity Hospital,Department of Functional NeurosurgeryJun Ren论文数: 0 引用数: 0 h-index: 0机构: Xiamen Humanity Hospital,Department of Functional NeurosurgeryXin Wang论文数: 0 引用数: 0 h-index: 0机构: Xiamen Humanity Hospital,Department of Functional NeurosurgeryYi Yao论文数: 0 引用数: 0 h-index: 0机构: Xiamen Humanity Hospital,Department of Functional NeurosurgeryYing Zhou论文数: 0 引用数: 0 h-index: 0机构: Xiamen Humanity Hospital,Department of Functional Neurosurgery
- [22] Mild phenotype in a patient with developmental and epileptic encephalopathy carrying a novel de novo KCNB1 variantNEUROLOGICAL SCIENCES, 2021, 42 (10) : 4325 - 4327Lu, Jin-Mei论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Sch Med, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Sch Med, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310009, Peoples R ChinaZhang, Jian-Fang论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Sch Med, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Sch Med, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310009, Peoples R ChinaJi, Cai-Hong论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Sch Med, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Sch Med, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310009, Peoples R ChinaHu, Jing论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Sch Med, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Sch Med, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310009, Peoples R ChinaWang, Kang论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Sch Med, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Sch Med, Epilepsy Ctr,Dept Neurol, 79 Qingchun Rd, Hangzhou 310009, Peoples R China
- [23] Mild phenotype in a patient with developmental and epileptic encephalopathy carrying a novel de novo KCNB1 variantNeurological Sciences, 2021, 42 : 4325 - 4327Jin-Mei Lu论文数: 0 引用数: 0 h-index: 0机构: Zhejiang University,Epilepsy Center, Department of Neurology, the First Affiliated Hospital, School of MedicineJian-Fang Zhang论文数: 0 引用数: 0 h-index: 0机构: Zhejiang University,Epilepsy Center, Department of Neurology, the First Affiliated Hospital, School of MedicineCai-Hong Ji论文数: 0 引用数: 0 h-index: 0机构: Zhejiang University,Epilepsy Center, Department of Neurology, the First Affiliated Hospital, School of MedicineJing Hu论文数: 0 引用数: 0 h-index: 0机构: Zhejiang University,Epilepsy Center, Department of Neurology, the First Affiliated Hospital, School of MedicineKang Wang论文数: 0 引用数: 0 h-index: 0机构: Zhejiang University,Epilepsy Center, Department of Neurology, the First Affiliated Hospital, School of Medicine
- [24] A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathyHUMAN MUTATION, 2019, 40 (03) : 281 - 287Chen, Xiaomin论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Affiliated Hosp 2, Ctr Sci Res, Wenzhou, Peoples R China Wenzhou Med Univ, Yuying Childrens Hosp, Wenzhou, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R ChinaJin, Jing论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Sch Lab Med & Life Sci, Wenzhou, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R ChinaWang, Qiongdan论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Yuying Childrens Hosp, Wenzhou, Peoples R China Wenzhou Med Univ, Affiliated Hosp 2, Det Lab Med, Wenzhou, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R ChinaXue, Huangqi论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Sch Lab Med & Life Sci, Wenzhou, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R ChinaZhang, Na论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R ChinaDu, Yaoqiang论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R China Hangzhou Med Coll, Key Lab Lab Med, Zhejiang Prov Peoples Hosp, Res Ctr Blood Transfus Med,Peoples Hosp,Educ Mini, Hangzhou, Zhejiang, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R ChinaZhang, Tao论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R ChinaZhang, Bing论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R ChinaWu, Jinyu论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R ChinaLiu, Zhenwei论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R China Wenzhou Med Univ, Inst Genom Med, Wenzhou 325027, Peoples R China
- [25] Mitochondrial encephalopathy in a patient with a 13042G>A de novo mutationJOURNAL OF CLINICAL PATHOLOGY, 2012, 65 (12) : 1147 - U115Slawek, Jaroslaw论文数: 0 引用数: 0 h-index: 0机构: Med Acad Gdansk, Dept Neurol Psychiat Nursing, PL-80227 Gdansk, Poland St Adalbert Hosp, Dept Neurol, Gdansk, Poland Med Acad Gdansk, Dept Neurol Psychiat Nursing, PL-80227 Gdansk, Poland论文数: 引用数: h-index:机构:Tonska, Katarzyna论文数: 0 引用数: 0 h-index: 0机构: Univ Warsaw, Fac Biol, Inst Genet & Biotechnol, Warsaw, Poland Med Acad Gdansk, Dept Neurol Psychiat Nursing, PL-80227 Gdansk, PolandKodron, Agata论文数: 0 引用数: 0 h-index: 0机构: Univ Warsaw, Fac Biol, Inst Genet & Biotechnol, Warsaw, Poland Med Acad Gdansk, Dept Neurol Psychiat Nursing, PL-80227 Gdansk, PolandSchinwelski, Michal论文数: 0 引用数: 0 h-index: 0机构: Med Univ Gdansk, St Adalbert Hosp, Dept Neurol Psychiat Nursing & Neurol, Gdansk, Poland Med Acad Gdansk, Dept Neurol Psychiat Nursing, PL-80227 Gdansk, PolandSitek, Emilia Jadwiga论文数: 0 引用数: 0 h-index: 0机构: Med Acad Gdansk, Dept Neurol Psychiat Nursing, PL-80227 Gdansk, Poland St Adalbert Hosp, Dept Neurol, Gdansk, Poland Med Acad Gdansk, Dept Neurol Psychiat Nursing, PL-80227 Gdansk, Poland论文数: 引用数: h-index:机构:Kaminska, Anna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Neurol, Warsaw, Poland Med Acad Gdansk, Dept Neurol Psychiat Nursing, PL-80227 Gdansk, PolandKwiecinski, Hubert论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Neurol, Warsaw, Poland Med Acad Gdansk, Dept Neurol Psychiat Nursing, PL-80227 Gdansk, Poland
- [26] De novo DNM1 mutations in two cases of epileptic encephalopathyEPILEPSIA, 2016, 57 (01) : E18 - E23Nakashima, Mitsuko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanKouga, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Neurol, Yokohama, Kanagawa, Japan Jichi Med Univ, Dept Pediat, Shimotsuke, Tochigi, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanLourenco, Charles Marques论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Med Ribeirao Preto, Neurogenet Unit, BR-05508 Sao Paulo, Brazil Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanShiina, Masaaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Biochem, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanGoto, Tomohide论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanTsurusaki, Yoshinori论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanMiyatake, Satoko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:Ogata, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Biochem, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanOsaka, Hitoshi论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Neurol, Yokohama, Kanagawa, Japan Jichi Med Univ, Dept Pediat, Shimotsuke, Tochigi, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan
- [27] A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathyEUROPEAN 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
- [28] De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic EncephalopathyANNALS OF HUMAN GENETICS, 2016, 80 (04) : 235 - 240论文数: 引用数: h-index:机构:Fukai, Ryoko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, JapanMatsushita, Yuki论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, Japan Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, Japan论文数: 引用数: h-index:机构:Akamine, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, Japan Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, JapanTorio, Michiko论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, Japan Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, JapanSasazuki, Momoko论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, Japan Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, JapanIshizaki, Yoshito论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, Japan Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, JapanSanefuji, Masafumi论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, Japan Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, JapanTorisu, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, Japan Fukuoka Dent Coll, Dept Med, Sect Pediat, Fukuoka 8140193, Japan Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, JapanShaw, Chad A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, JapanHara, Toshiro论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, Japan Fukuoka Childrens Hosp, Fukuoka 8130017, Japan Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, Japan
- [29] De novo mutations in HCN1 cause early infantile epileptic encephalopathyNATURE GENETICS, 2014, 46 (06) : 640 - 645论文数: 引用数: h-index:机构:Dalle, Carine论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France Inst Cerveau & Moelle Epiniere, Plateforme Electrophysiol, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceRastetter, Agnes论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: G Gaslini Inst Children, Pediat Neurol & Muscular Dis Unit, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, Francede Kovel, Carolien G. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceNabbout, Rima论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Ctr Reference Epilepsies Rares, Dept Pediat Neurol, Paris, France Univ Paris 05, INSERM, U663, Sorbonne Paris Cite,Hop Necker Enfants Malad, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceCances, Claude论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Toulouse, Hop Enfants, Serv Neurol Pediat, Toulouse, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceVille, Dorothee论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lyon, Hop Femme Mere Enfant, Serv Neurol Pediat, Bron, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceBrilstra, Eva H.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceGobbi, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Inst Neurol Sci Bologna, IRCCS, Child Neurol Unit, Bologna, Italy Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceRaffo, Emmanuel论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nancy, Hop Enfants Brabois, Serv Neuropediat, Vandoeuvre Les Nancy, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceBouteiller, Delphine论文数: 0 引用数: 0 h-index: 0机构: Inst Cerveau & Moelle Epiniere, Plateforme Genotypage & Sequencage, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceMarie, Yannick论文数: 0 引用数: 0 h-index: 0机构: Inst Cerveau & Moelle Epiniere, Plateforme Genotypage & Sequencage, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceTrouillard, Oriane论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, UMRS 975, Paris, France Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonctionnelle Neurogenet Mol & Cellulaire, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceRobbiano, Angela论文数: 0 引用数: 0 h-index: 0机构: Gaslini Inst, Dept Neurosci, Neurogenet Lab, Genoa, Italy Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonctionnelle Cytogenet, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceAgher, Dahbia论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceRoze, Emmanuel论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, CNRS 7225, Paris, France Univ Paris 06, UMRS 975, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceLesage, Suzanne论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, CNRS 7225, Paris, France Univ Paris 06, UMRS 975, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceNicolas, Aude论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, CNRS 7225, Paris, France Univ Paris 06, UMRS 975, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceBrice, Alexis论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, CNRS 7225, Paris, France Univ Paris 06, UMRS 975, Paris, France Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonctionnelle Neurogenet Mol & Cellulaire, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France论文数: 引用数: h-index:机构:Vogt, Cornelia论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Inst Humangenet, D-97070 Wurzburg, Germany Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceEl Hajj, Nady论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Inst Humangenet, D-97070 Wurzburg, Germany Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceSchneiderr, Eberhard论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Inst Humangenet, D-97070 Wurzburg, Germany Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France论文数: 引用数: h-index:机构:Weckhuysen, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2610 Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2020 Antwerp, Belgium Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceGormley, Padhraig论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France论文数: 引用数: h-index:机构:De Jonghe, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2610 Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2020 Antwerp, Belgium Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceHelbig, Ingo论文数: 0 引用数: 0 h-index: 0机构: Univ Kiel, Univ Med Ctr Schleswig Holstein, Dept Neuropediat, Kiel, Germany Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceBaulac, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, CNRS 7225, Paris, France Univ Paris 06, UMRS 975, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceZara, Federico论文数: 0 引用数: 0 h-index: 0机构: Gaslini Inst, Dept Neurosci, Neurogenet Lab, Genoa, Italy Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceKoeleman, Bobby P. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceHaaf, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Inst Humangenet, D-97070 Wurzburg, Germany Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceLeGuern, Eric论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, CNRS 7225, Paris, France Univ Paris 06, UMRS 975, Paris, France Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonctionnelle Neurogenet Mol & Cellulaire, Paris, France Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, FranceDepienne, Christel论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France Univ Paris 06, UMRS 975, Paris, France Univ Wurzburg, Inst Humangenet, D-97070 Wurzburg, Germany Hop La Pitie Salpetriere, INSERM, UMR 975, Inst Cerveau & Moelle Epiniere, Paris, France
- [30] De novo KCNT1 mutations in early-onset epileptic encephalopathyEPILEPSIA, 2015, 56 (09) : E121 - E128Ohba, Chihiro论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Clin Neurol & Stroke Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanKato, Mitsuhiro论文数: 0 引用数: 0 h-index: 0机构: Yamagata Univ, Fac Med, Dept Pediat, Yamagata 990, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanTakahashi, Nobuya论文数: 0 引用数: 0 h-index: 0机构: Yamagata Univ, Fac Med, Dept Pediat, Yamagata 990, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanOsaka, Hitoshi论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa, Japan Jichi Med Sch, Dept Pediat, Shimotsuke, Tochigi, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanShiihara, Takashi论文数: 0 引用数: 0 h-index: 0机构: Gunma Childrens Med Ctr, Dept Neurol, Shibukawa, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanTohyama, Jun论文数: 0 引用数: 0 h-index: 0机构: Nishi Niigata Chuo Natl Hosp, Dept Pediat, Epilepsy Ctr, Niigata, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Fujii, Yuji论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ Hosp, Dept Pediat, Hiroshima, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanHara, Munetsugu论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Med Ctr Maternal & Child Hlth, Dept Neonatol, Kurume, Fukuoka, Japan Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka 830, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanTsurusawa, Reimi论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Chikushi Hosp, Dept Pediat, Fukuoka 81401, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanInoue, Takahito论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Chikushi Hosp, Dept Pediat, Fukuoka 81401, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanOgata, Reina论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Childrens Hosp, Dept Pediat Neurol, Fukuoka, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanWatanabe, Yoriko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 Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanTogashi, Noriko论文数: 0 引用数: 0 h-index: 0机构: Miyagi Childrens Hosp, Dept Neurol, Sendai, Miyagi, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanKodera, Hirofumi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanNakashima, 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 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanTsurusaki, Yoshinori论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanTanaka, Fumiaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Clin Neurol & Stroke Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:Matsumoto, 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 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan