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- [1] Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutationScientific Reports, 9Ana Ricobaraza论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Lucia Mora-Jimenez论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Elena Puerta论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Rocio Sanchez-Carpintero论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Ana Mingorance论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Julio Artieda论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Maria Jesus Nicolas论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Guillermo Besne论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Maria Bunuales论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Manuela Gonzalez-Aparicio论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Noemi Sola-Sevilla论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Miguel Valencia论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Ruben Hernandez-Alcoceba论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,
- [2] Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutationSCIENTIFIC REPORTS, 2019, 9 (1)Ricobaraza, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, Spain Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, SpainMora-Jimenez, Lucia论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, Spain Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, SpainPuerta, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra, Navarra Inst Hlth Res, Dept Pharmacol & Toxicol, IdiSNA, Pamplona, Spain Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, SpainSanchez-Carpintero, Rocio论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Navarra, Navarra Inst Hlth Res, Dravet Syndrome Unit, Pediat Neurol Unit,IdiSNA, Pamplona, Spain Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, SpainMingorance, Ana论文数: 0 引用数: 0 h-index: 0机构: Dracaena Consulting, Madrid, Spain Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, SpainArtieda, Julio论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra, Neurosci Program CIMA, Navarra Inst Hlth Res, IdiSNA,Neurophysiol Serv,Clin Univ Navarra, Pamplona, Spain Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, SpainNicolas, Maria Jesus论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra, Navarra Inst Hlth Res, Neurosci Program CIMA, IdiSNA, Pamplona, Spain Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, SpainBesne, Guillermo论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra, Navarra Inst Hlth Res, Neurosci Program CIMA, IdiSNA, Pamplona, Spain Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, SpainBunuales, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, Spain Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, SpainGonzalez-Aparicio, Manuela论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, Spain Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, SpainSola-Sevilla, Noemi论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Navarra, Navarra Inst Hlth Res, Dravet Syndrome Unit, Pediat Neurol Unit,IdiSNA, Pamplona, Spain Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, SpainValencia, Miguel论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra, Navarra Inst Hlth Res, Neurosci Program CIMA, IdiSNA, Pamplona, Spain Univ Navarra, Navarra Inst Hlth Res, Gene Therapy Program CIMA, IdiSNA, Pamplona, Spain论文数: 引用数: h-index:机构:
- [3] Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation (vol 9, 14172, 2019)SCIENTIFIC REPORTS, 2021, 11 (01)Ricobaraza, Ana论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health researchMora-Jimenez, Lucia论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health researchPuerta, Elena论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health researchSanchez-Carpintero, Rocio论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health researchMingorance, Ana论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health researchArtieda, Julio论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health researchNicolas, Maria Jesus论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health researchBesne, Guillermo论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health researchBunuales, Maria论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health researchGonzalez-Aparicio, Manuela论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health researchSola-Sevilla, Noemi论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health researchValencia, Miguel论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health researchHernandez-Alcoceba, Ruben论文数: 0 引用数: 0 h-index: 0机构: University of Navarra,Gene Therapy Program CIMA, IdiSNA, Navarra institute for health research
- [4] A novel SCN1A missense mutation in familial Dravet syndromeEPILEPSIA, 2022, 63 : 200 - 201Ribosa-Nogue, R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Epilepsy Unit, Dept Neurol, Barcelona, Spain Hosp Santa Creu & Sant Pau, Epilepsy Unit, Dept Neurol, Barcelona, SpainSierra-Marcos, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Epilepsy Unit, Dept Neurol, Barcelona, Spain Hosp Santa Creu & Sant Pau, Epilepsy Unit, Dept Neurol, Barcelona, SpainCoca, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Pediat Neurol Dept, Barcelona, Spain Hosp Santa Creu & Sant Pau, Epilepsy Unit, Dept Neurol, Barcelona, SpainTuron, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Pediat Neurol Dept, Barcelona, Spain Hosp Santa Creu & Sant Pau, Epilepsy Unit, Dept Neurol, Barcelona, SpainRodriguez-Santiago, B.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Genet Dept, Barcelona, Spain Hosp Santa Creu & Sant Pau, St Pau Biomed Res Inst, Barcelona, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, U705, Madrid, Spain Univ Autonoma Barcelona, Genet & Microbiol Dept, Bellaterra, Spain Hosp Santa Creu & Sant Pau, Epilepsy Unit, Dept Neurol, Barcelona, SpainBoronat, S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Pediat Neurol Dept, Barcelona, Spain Hosp Santa Creu & Sant Pau, Epilepsy Unit, Dept Neurol, Barcelona, Spain
- [5] On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutationBRAIN & DEVELOPMENT, 2012, 34 (08): : 617 - 619Shi, Xiuyu论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan Chinese Peoples Liberat Army Gen Hosp, Dept Pediat, Beijing, Peoples R China Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanWang, Jiwen论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan Shandong Univ, Qilu Hosp, Dept Pediat, Jinan 250100, Peoples R China Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, JapanKurahashi, Hirokazu论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan Nagoya Univ, Grad Sch Med, Dept Pediat, Aichi, Japan Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan论文数: 引用数: h-index:机构:Higurashi, Norimichi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, 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, Sch Med, Dept Pediat, Fukuoka 81401, Japan
- [6] Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy familyEPILEPTIC DISORDERS, 2010, 12 (02) : 117 - 124Azmanov, Dimitar N.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, Australia Univ Western Australia, Mol Genet Lab, Med Res Ctr, Perth, WA 6009, Australia Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, AustraliaZhelyazkova, Sashka论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Dept Neurol, Sofia, Bulgaria Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, AustraliaDimova, Petya S.论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Clin Child Neurol, St Naum Univ Hosp Neurol & Psychiat, Sofia, Bulgaria Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, AustraliaRadionova, Melania论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Dept Neurol, Sofia, Bulgaria Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, AustraliaBojinova, Veneta论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Clin Child Neurol, St Naum Univ Hosp Neurol & Psychiat, Sofia, Bulgaria Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, AustraliaFlorez, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, Australia Univ Western Australia, Mol Genet Lab, Med Res Ctr, Perth, WA 6009, Australia Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, AustraliaSmith, Shelagh J.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, AustraliaTournev, Ivailo论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Dept Neurol, Sofia, Bulgaria New Bulgarian Univ, Dept Cognit Sci & Psychol, Sofia, Bulgaria Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, AustraliaJablensky, Assen论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Sch Psychiat & Clin Neurosci, Perth, WA 6009, Australia Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, AustraliaMulley, John论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Epilepsy Res Program, Adelaide, SA, Australia Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, AustraliaScheffer, Ingrid论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Med, Heidelberg, Vic, Australia Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, AustraliaKalaydjieva, Luba论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, Australia Univ Western Australia, Mol Genet Lab, Med Res Ctr, Perth, WA 6009, Australia Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, AustraliaSander, Josemir W.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England SEIN Epilepsy Inst Netherlands Fdn, Heemstede, Netherlands Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, Australia
- [7] Mosaicism for a missense SCN1A mutation and borderline Dravet syndrome in a Roma/Gypsy familyJOURNAL OF NEUROLOGY, 2010, 257 : S179 - S179Zhelyazkova, S.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, BulgariaAzmanov, D.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, BulgariaDimova, P.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, BulgariaRadionova, M.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, BulgariaBojinova, V.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, BulgariaFlorez, L.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, BulgariaSmith, S.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, BulgariaTournev, I.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, BulgariaJablensky, A.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, BulgariaMulley, J.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, BulgariaScheffer, I.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, BulgariaKalaydjieva, L.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, BulgariaSander, J.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Sofia, Bulgaria
- [8] 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
- [9] Parental SCN1A mutation mosaicism in familial Dravet syndromeCLINICAL GENETICS, 2009, 76 (04) : 398 - 403Selmer, K. K.论文数: 0 引用数: 0 h-index: 0机构: Ulleval Hosp, Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Oslo, Inst Med Genet, Oslo 3, Norway Ulleval Hosp, Oslo Univ Hosp, Dept Med Genet, Oslo, NorwayEriksson, A-S论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Div Clin Neurosci, Dept Neurol, Sect Child Epileptol, Oslo, Norway Ulleval Hosp, Oslo Univ Hosp, Dept Med Genet, Oslo, NorwayBrandal, K.论文数: 0 引用数: 0 h-index: 0机构: Ulleval Hosp, Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Ulleval Hosp, Oslo Univ Hosp, Dept Med Genet, Oslo, NorwayEgeland, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Oslo, Inst Forens Med, Oslo, Norway Oslo Univ Coll, Oslo, Norway Ulleval Hosp, Oslo Univ Hosp, Dept Med Genet, Oslo, NorwayTallaksen, C.论文数: 0 引用数: 0 h-index: 0机构: Ulleval Hosp, Oslo Univ Hosp, Dept Neurol, Oslo, Norway Univ Oslo, Fac Med, Oslo, Norway Ulleval Hosp, Oslo Univ Hosp, Dept Med Genet, Oslo, NorwayUndlien, D. E.论文数: 0 引用数: 0 h-index: 0机构: Ulleval Hosp, Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Oslo, Inst Med Genet, Oslo 3, Norway Ulleval Hosp, Oslo Univ Hosp, Dept Med Genet, Oslo, Norway
- [10] A case of SUDEP in a patient with Dravet syndrome with SCN1A mutationEPILEPSIA, 2010, 51 (09) : 1915 - 1918Le Gal, Francois论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Child & Adolescent Dept, Pediat Specialties Serv, Geneva, SwitzerlandKorff, Christian M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Child & Adolescent Dept, Pediat Specialties Serv, Geneva, Switzerland Univ Hosp Geneva, Child & Adolescent Dept, Pediat Specialties Serv, Geneva, SwitzerlandMonso-Hinard, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Child & Adolescent Dept, Pediat Specialties Serv, Geneva, SwitzerlandMund, Michael T.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Legal Med, Zurich, Switzerland Univ Hosp Geneva, Child & Adolescent Dept, Pediat Specialties Serv, Geneva, SwitzerlandMorris, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Child & Adolescent Dept, Pediat Specialties Serv, Geneva, SwitzerlandMalafosse, Alain论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Psychiat, Geneva, Switzerland Univ Hosp Geneva, Child & Adolescent Dept, Pediat Specialties Serv, Geneva, SwitzerlandSchmitt-Mechelke, Thomas论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Childhood Neurol, Luzern, Switzerland Univ Hosp Geneva, Child & Adolescent Dept, Pediat Specialties Serv, Geneva, Switzerland