共 50 条
- [1] Mutation analysis of SCN1A and SCN2A in finnish patients with infantile onset intractable epilepsyEPILEPSIA, 2006, 47 : 89 - 90Anttonen, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandAhonen, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandGaily, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandLiukkonen, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandAine, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandHerrgård, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandMetsähonkala, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandRantala, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandSirén, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandLehesjoki, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, Finland
- [2] Mutation analysis of SCN1A and SCN2A2 in finnish patients with infantile onset intractable epilepsyEPILEPSIA, 2006, 47 : 363 - 364Anttonen, Anna-Kaisa论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandAhonen, Erika论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandGaily, Eija论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandLiukkonen, Elina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandAine, Marjo-Riitta论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandHerrgård, Eila论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandMetsähonkala, Liisa论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandRantala, Heikki论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandSirén, Auli论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandLehesjoki, Anna-Elina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, Finland
- [3] The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsyDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2013, 55 (02): : 154 - 161Brunklaus, Andreas论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, Scotland Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandDorris, Liam论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, Scotland Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandEllis, Rachael论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Duncan Guthrie Inst Med Genet, Glasgow G3 8SJ, Lanark, Scotland Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandReavey, Eleanor论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Duncan Guthrie Inst Med Genet, Glasgow G3 8SJ, Lanark, Scotland Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandLee, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, Scotland Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandForbes, Gordon论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Duncan Guthrie Inst Med Genet, Glasgow G3 8SJ, Lanark, Scotland Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandAppleton, Richard论文数: 0 引用数: 0 h-index: 0机构: Alder Hey Childrens NHS Fdn Trust, Dept Neurol, Liverpool, Merseyside, England Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandCross, J. Helen论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Neurosci Unit, London, England Great Ormond St Hosp Sick Children, London WC1N 3JH, England Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandFerrie, Colin论文数: 0 引用数: 0 h-index: 0机构: Leeds Gen Infirm, Dept Paediat Neurol, Leeds, W Yorkshire, England Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandHughes, Imelda论文数: 0 引用数: 0 h-index: 0机构: Royal Manchester Childrens Hosp, Dept Paediat Neurol, Manchester M27 1HA, Lancs, England Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandJollands, Alice论文数: 0 引用数: 0 h-index: 0机构: Univ Dundee, Tayside Childrens Hosp & Child Hlth, Ninewells Hosp, Dundee, Scotland Sch Med, Dundee, Scotland Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandKing, Mary D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Paediat Neurol Dept, Dublin, Ireland Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandLivingston, John论文数: 0 引用数: 0 h-index: 0机构: Leeds Gen Infirm, Dept Paediat Neurol, Leeds, W Yorkshire, England Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandLynch, Bryan论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Paediat Neurol Dept, Dublin, Ireland Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandPhilip, Sunny论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp NHS Fdn Trust, Dept Neurol, Birmingham, W Midlands, England Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandScheffer, Ingrid E.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth & Royal Childrens Hosp, Florey Neurosci Inst, Dept Med, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth & Royal Childrens Hosp, Florey Neurosci Inst, Dept Paediat, Melbourne, Vic, Australia Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandWilliams, Ruth论文数: 0 引用数: 0 h-index: 0机构: Evelina Childrens Hosp, Dept Paediat Neurol, London, England Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, ScotlandZuberi, Sameer M.论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, Scotland Royal Hosp Sick Children, Paediat Neurosci Res Grp, Glasgow G3 8SJ, Lanark, Scotland
- [4] SCN1A gain of function in early infantile encephalopathyANNALS OF NEUROLOGY, 2019, 85 (04) : 514 - 525Berecki, Geza论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic, Australia论文数: 引用数: h-index:机构:Terhag, Jan论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic, AustraliaMaljevic, Snezana论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic, AustraliaGazina, Elena, V论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic, AustraliaHill, Sean L.论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol Lausanne, Blue Brain Project, Geneva, Switzerland Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic, Australia论文数: 引用数: h-index:机构:
- [5] SCN1A missense mutation associated with infantile partial epilepsyNEUROSCIENCE RESEARCH, 2007, 58 : S187 - S187Ohmori, Iori论文数: 0 引用数: 0 h-index: 0机构: Okayama Univ, Dept Cellular Physiol, Okayama 7008530, JapanOuchida, Mamoru论文数: 0 引用数: 0 h-index: 0机构: Okayama Univ, Dept Cellular Physiol, Okayama 7008530, JapanKobayashi, Katsuhiro论文数: 0 引用数: 0 h-index: 0机构: Okayama Univ, Dept Cellular Physiol, Okayama 7008530, JapanOhtsuka, Yoko论文数: 0 引用数: 0 h-index: 0机构: Okayama Univ, Dept Cellular Physiol, Okayama 7008530, JapanShimizu, Kenji论文数: 0 引用数: 0 h-index: 0机构: Okayama Univ, Dept Cellular Physiol, Okayama 7008530, JapanNishiki, Teiichi论文数: 0 引用数: 0 h-index: 0机构: Okayama Univ, Dept Cellular Physiol, Okayama 7008530, JapanTomizawa, Kazuhito论文数: 0 引用数: 0 h-index: 0机构: Okayama Univ, Dept Cellular Physiol, Okayama 7008530, JapanMatsui, Hideki论文数: 0 引用数: 0 h-index: 0机构: Okayama Univ, Dept Cellular Physiol, Okayama 7008530, Japan
- [6] Early-onset familial hemiplegic migraine due to a novel SCN1A mutationCEPHALALGIA, 2016, 36 (13) : 1238 - 1247Fan, Chunxiang论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Div Neurophysiol, Containerstadt Helmholtzstr 10-1, D-89081 Ulm, Germany Univ Ulm, Div Neurophysiol, Containerstadt Helmholtzstr 10-1, D-89081 Ulm, GermanyWolking, Stefan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 Univ Ulm, Div Neurophysiol, Containerstadt Helmholtzstr 10-1, D-89081 Ulm, GermanyLehmann-Horn, Frank论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Div Neurophysiol, Containerstadt Helmholtzstr 10-1, D-89081 Ulm, Germany Univ Ulm, Div Neurophysiol, Containerstadt Helmholtzstr 10-1, D-89081 Ulm, GermanyHedrich, Ulrike B. S.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 Univ Ulm, Div Neurophysiol, Containerstadt Helmholtzstr 10-1, D-89081 Ulm, GermanyFreilinger, Tobias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 Univ Ulm, Div Neurophysiol, Containerstadt Helmholtzstr 10-1, D-89081 Ulm, GermanyLerche, 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 Univ Ulm, Div Neurophysiol, Containerstadt Helmholtzstr 10-1, D-89081 Ulm, GermanyBorck, Guntram论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Inst Human Genet, Ulm, Germany Univ Ulm, Div Neurophysiol, Containerstadt Helmholtzstr 10-1, D-89081 Ulm, GermanyKubisch, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Ulm, Div Neurophysiol, Containerstadt Helmholtzstr 10-1, D-89081 Ulm, GermanyJurkat-Rott, Karin论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Div Neurophysiol, Containerstadt Helmholtzstr 10-1, D-89081 Ulm, Germany Univ Ulm, Div Neurophysiol, Containerstadt Helmholtzstr 10-1, D-89081 Ulm, Germany
- [7] SCN1A gain-of-function mutation causing an early onset epileptic encephalopathyEPILEPSIA, 2023, 64 (05) : 1318 - 1330Clatot, Jerome论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USA Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USAParthasarathy, Shridhar论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USA Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Biomed Hlth Informat, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USACohen, Stacey论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USA Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Biomed Hlth Informat, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USAMcKee, Jillian L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USA Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USAMassey, Shavonne论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USA Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USASomarowthu, Ala论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USAGoldberg, Ethan M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Biomed Hlth Informat, Philadelphia, PA USA Univ Penn, Dept Neurol, Sch Med, Philadelphia, PA USA Univ Penn, Dept Neurosci, Sch Med, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USAHelbig, Ingo论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USA Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat, Philadelphia, PA USA Childrens Hosp Philadelphia, Dept Biomed Hlth Informat, Philadelphia, PA USA Univ Penn, Dept Neurol, Sch Med, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA USA
- [8] THE HEREDITARY FEATURES OF EPILEPSIES WITH SCN1A MUTATIONSEPILEPSIA, 2015, 56 : 222 - 222Wang, J.论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Inst Neurosci, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Guangzhou, Guangdong, Peoples R China Key Lab Neurogenet & Channelopathies Guangdong Pr, Guangzhou, Guangdong, Peoples R China Minist Educ China, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Inst Neurosci, Guangzhou, Guangdong, Peoples R ChinaXu, H.论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Inst Neurosci, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Guangzhou, Guangdong, Peoples R China Key Lab Neurogenet & Channelopathies Guangdong Pr, Guangzhou, Guangdong, Peoples R China Minist Educ China, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Inst Neurosci, Guangzhou, Guangdong, Peoples R ChinaMeng, H.论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Inst Neurosci, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Guangzhou, Guangdong, Peoples R China Key Lab Neurogenet & Channelopathies Guangdong Pr, Guangzhou, Guangdong, Peoples R China Minist Educ China, Guangzhou, Guangdong, Peoples R China Jinan Univ, Affiliated Hosp 1, Dept Neurol, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Inst Neurosci, Guangzhou, Guangdong, Peoples R ChinaYu, L.论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Inst Neurosci, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Guangzhou, Guangdong, Peoples R China Key Lab Neurogenet & Channelopathies Guangdong Pr, Guangzhou, Guangdong, Peoples R China Minist Educ China, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Inst Neurosci, Guangzhou, Guangdong, Peoples R ChinaLiao, W.论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Inst Neurosci, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Guangzhou, Guangdong, Peoples R China Key Lab Neurogenet & Channelopathies Guangdong Pr, Guangzhou, Guangdong, Peoples R China Minist Educ China, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Inst Neurosci, Guangzhou, Guangdong, Peoples R China
- [9] Identification of SCN1a mutations: Implications for management of children with infantile onset epilepsyEPILEPSIA, 2006, 47 : 153 - 153Zuberi, Sameer M.论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Fraser Allander Neurosci Unit, Glasgow, Lanark, ScotlandBirch, Rachael论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Fraser Allander Neurosci Unit, Glasgow, Lanark, ScotlandConlin, Louise论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Fraser Allander Neurosci Unit, Glasgow, Lanark, ScotlandStenhouse, Susan A. R.论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Fraser Allander Neurosci Unit, Glasgow, Lanark, Scotland
- [10] SCN1A mutation and focal epilepsy: diagnosis and application in adultsEUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 1162 - 1162Miranda Santiago, J.论文数: 0 引用数: 0 h-index: 0机构: Burgos Univ Hosp, Neurol, Burgos, Spain Burgos Univ Hosp, Neurol, Burgos, SpainGamez Beltran, P.论文数: 0 引用数: 0 h-index: 0机构: Burgos Univ Hosp, Neurol, Burgos, Spain Burgos Univ Hosp, Neurol, Burgos, SpainEchavarria Iniguez, A.论文数: 0 引用数: 0 h-index: 0机构: Burgos Univ Hosp, Neurol, Burgos, Spain Burgos Univ Hosp, Neurol, Burgos, SpainPascual Carrascal, D.论文数: 0 引用数: 0 h-index: 0机构: Burgos Univ Hosp, Neurol, Burgos, Spain Burgos Univ Hosp, Neurol, Burgos, SpainAguado Garcia, L.论文数: 0 引用数: 0 h-index: 0机构: Burgos Univ Hosp, Neurol, Burgos, Spain Burgos Univ Hosp, Neurol, Burgos, SpainHernando Asensio, A.论文数: 0 引用数: 0 h-index: 0机构: Burgos Univ Hosp, Neurol, Burgos, Spain Burgos Univ Hosp, Neurol, Burgos, SpainConejo Moreno, D.论文数: 0 引用数: 0 h-index: 0机构: Burgos Univ Hosp, Pediat, Burgos, Spain Burgos Univ Hosp, Neurol, Burgos, Spain