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- [42] Somatic mosaic deletions involving SCN1A cause Dravet syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (03) : 657 - 662Nakayama, Tojo论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Dept Pediat, Sch Med, Sendai, Miyagi, Japan Tohoku Univ, Dept Pediat, Sch Med, Sendai, Miyagi, Japan论文数: 引用数: h-index:机构:Yoshida, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pediat, Grad Sch Med, Kyoto, Japan Tohoku Univ, Dept Pediat, Sch Med, Sendai, Miyagi, JapanNasu, Hirosato论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Inst Epilepsy & Neurol Disorders, Natl Epilepsy Ctr, Shizuoka, Japan Tohoku Univ, Dept Pediat, Sch Med, Sendai, Miyagi, JapanShimojima, Keiko论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Inst Integrated Med Sci, Tokyo, Japan Tohoku Univ, Dept Pediat, Sch Med, Sendai, Miyagi, Japan论文数: 引用数: h-index:机构:Kure, Shigeo论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Dept Pediat, Sch Med, Sendai, Miyagi, Japan Tohoku Univ, Dept Pediat, Sch Med, Sendai, Miyagi, JapanHirose, Shinichi论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka, Japan Fukuoka Univ, Cent Res Inst Mol Pathomechanisms Epilepsy, Fukuoka, Japan Tohoku Univ, Dept Pediat, Sch Med, Sendai, Miyagi, Japan
- [43] TANGO With SCN1A: Can This Molecular Dance Defeat Dravet Syndrome?EPILEPSY CURRENTS, 2021, 21 (01) : 60 - 61Wagnon, Jacy L.论文数: 0 引用数: 0 h-index: 0
- [44] Dravet Syndrome in Lebanon: First Report on Cases with SCN1A MutationsCASE REPORTS IN MEDICINE, 2019, 2019Alame, Saada论文数: 0 引用数: 0 h-index: 0机构: Lebanese Univ, Neuropediat Dept, Beirut, Lebanon Lebanese Univ, Neuropediat Dept, Beirut, LebanonEl-Houwayek, Eliane论文数: 0 引用数: 0 h-index: 0机构: Lebanese Univ, Pediat, Beirut, Lebanon Hop Univ Enfants Reine Fabiola HUDERF, Neuropediat, Brussels, Belgium Lebanese Univ, Neuropediat Dept, Beirut, Lebanon论文数: 引用数: h-index:机构:Sabbagh, Sandra论文数: 0 引用数: 0 h-index: 0机构: Hotel Dieu France, Serv Pediatrie, Beirut, Lebanon Lebanese Univ, Neuropediat Dept, Beirut, LebanonFawaz, Ali论文数: 0 引用数: 0 h-index: 0机构: Lebanese Univ, Neuropediat Dept, Beirut, Lebanon Lebanese Univ, Neuropediat Dept, Beirut, LebanonGillart, Anne-Celine论文数: 0 引用数: 0 h-index: 0机构: Inst Jerome Lejeune, Paris, France Lebanese Univ, Neuropediat Dept, Beirut, LebanonHasbini, Dana论文数: 0 引用数: 0 h-index: 0机构: Rafic Hariri Univ Hosp, Neuropediat Dept, Beirut, Lebanon Lebanese Univ, Neuropediat Dept, Beirut, LebanonDepienne, Christel论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Sorbonne Univ, CNRS,UMR 7225,UMR S 1127, INSERM,Inst Cerveau & Moelle Epiniere ICM,U1127, F-75013 Paris, France Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany Lebanese Univ, Neuropediat Dept, Beirut, LebanonMegarbane, Andre论文数: 0 引用数: 0 h-index: 0机构: Inst Jerome Lejeune, Paris, France INOVIE, Beirut, Lebanon Lebanese Univ, Neuropediat Dept, Beirut, Lebanon
- [45] Author Correction: Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutationScientific Reports, 11Ana Ricobaraza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 researchLucia Mora-Jimenez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 researchElena Puerta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 researchRocio Sanchez-Carpintero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 researchAna Mingorance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 researchJulio Artieda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 researchMaria Jesus Nicolas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 researchGuillermo Besne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 researchMaria Bunuales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 researchManuela Gonzalez-Aparicio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 researchNoemi Sola-Sevilla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 researchMiguel Valencia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 researchRuben Hernandez-Alcoceba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
- [46] Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1ABRAIN & DEVELOPMENT, 2023, 45 (06): : 317 - 323Hanafusa, Hiroaki论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, Japan论文数: 引用数: h-index:机构:Kondo, Hidehito论文数: 0 引用数: 0 h-index: 0机构: Japanese Red Cross Kyoto Daiichi Hosp, Dept Pediat, Kyoto, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, JapanNagasaka, Miwako论文数: 0 引用数: 0 h-index: 0机构: Takatsuki Gen Hosp, Dept Clin & Mol Genet, Takatsuki, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, JapanYe, Ming Juan论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, JapanOikawa, Shizuka论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, JapanTokumoto, Shoichi论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, Japan论文数: 引用数: h-index:机构:Nishiyama, Masahiro论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Neurol, Kobe, Hyogo, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, JapanMorisada, Naoya论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Genet, Kobe, Hyogo, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Nagase, Hiroaki论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, Japan
- [47] SCN1A mutation associated with atypical Panayiotopoulos syndromeNEUROLOGY, 2007, 69 (06) : 609 - 611Grosso, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Pediat Neurol Sect, Dept Pediat, I-53100 Siena, ItalyOrrico, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Pediat Neurol Sect, Dept Pediat, I-53100 Siena, ItalyGalli, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Pediat Neurol Sect, Dept Pediat, I-53100 Siena, ItalyDi Bartolo, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Pediat Neurol Sect, Dept Pediat, I-53100 Siena, ItalySorrentino, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Pediat Neurol Sect, Dept Pediat, I-53100 Siena, ItalyBalestri, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Pediat Neurol Sect, Dept Pediat, I-53100 Siena, Italy
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- [49] Deletions of SCN1A 5′ Genomic Region with Promoter Activity in Dravet SyndromeHUMAN MUTATION, 2010, 31 (07) : 820 - 829Nakayama, Tojo论文数: 0 引用数: 0 h-index: 0机构: RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, Japan Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi 980, Japan RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, JapanOgiwara, Ikuo论文数: 0 引用数: 0 h-index: 0机构: RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, Japan RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, JapanIto, Koichi论文数: 0 引用数: 0 h-index: 0机构: RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, Japan Univ Tokyo, Dept Comparat Pathophysiol, Grad Sch Agr & Life Sci, Tokyo, Japan RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, JapanKaneda, Makoto论文数: 0 引用数: 0 h-index: 0机构: RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, Japan Keio Univ, Sch Med, Dept Physiol, Tokyo 160, Japan RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, JapanMazaki, Emi论文数: 0 引用数: 0 h-index: 0机构: RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, Japan RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, JapanOsaka, Hitoshi论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Neurol, Yokohama, Kanagawa, Japan RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, JapanOhtani, Hideyuki论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Inst Epilepsy & Neurol Disorders, Natl Epilepsy Ctr, Shizuoka, Japan RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, JapanInoue, Yushi论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Inst Epilepsy & Neurol Disorders, Natl Epilepsy Ctr, Shizuoka, Japan RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, JapanFujiwara, Tateki论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Inst Epilepsy & Neurol Disorders, Natl Epilepsy Ctr, Shizuoka, Japan RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, Japan论文数: 引用数: h-index:机构:Haginoya, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi 980, Japan RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, JapanTsuchiya, Shigeru论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi 980, Japan RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, JapanYamakawa, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, Japan RIKEN, Neurogenet Lab, Brain Sci Inst, Wako, Saitama 3510198, Japan
- [50] Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndromeJOURNAL OF MEDICAL GENETICS, 2010, 47 (06) : 404 - 410Depienne, Christel论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, France INSERM, U975, Paris, France Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, Paris, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceTrouillard, Oriane论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceGourfinkel-An, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Paris, France Ctr Reference Epilepsies Rares, Paris, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceSaint-Martin, Cecile论文数: 0 引用数: 0 h-index: 0机构: INSERM, U975, Paris, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceBouteiller, Delphine论文数: 0 引用数: 0 h-index: 0机构: INSERM, U975, Paris, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceGraber, Denis论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Rochelle, Clin Enfant, Rochelle, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceBarthez-Carpentier, Marie-Anne论文数: 0 引用数: 0 h-index: 0机构: CHRU Tours, Hop Gatien Clocheville, Serv Neuropediat, Tours, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceGautier, Agnes论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Hop Mere Enfant, Clin Med Pediat, Nantes, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceVilleneuve, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Gastaut, Serv Neurol, Marseille, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceDravet, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Gastaut, Serv Neurol, Marseille, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceLivet, Marie-Odile论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Pays Aix, Serv Pediat, Aix En Provence, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceRivier-Ringenbach, Clothilde论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Villefranche S Saone, Serv Pediat Neonatol, Villefranche Sur Mer, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceAdam, Claude论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Paris, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceDupont, Sophie论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Paris, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceBaulac, Stephanie论文数: 0 引用数: 0 h-index: 0机构: INSERM, U975, Paris, France Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, Paris, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceHeron, Delphine论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonct Genet Clin, Paris, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceNabbout, Rima论文数: 0 引用数: 0 h-index: 0机构: Ctr Reference Epilepsies Rares, Paris, France Hop Necker Enfants Malad, AP HP, INSERM, Dept Neuropediat,U663, Paris, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, FranceLeGuern, Eric论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, France INSERM, U975, Paris, France Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, Paris, France GH Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Dept Genet & Cytogenet,Unite Fonct Neurogenet Mol, Paris, France