共 36 条
- [31] A case study of the evolution of status epilepticus in a child with DNM1L developmental and epileptic encephalopathy (DEE) characterised by continuous EEG monitoringEPILEPSIA, 2024, 65 : 139 - 140Navarro, D. G. Attard论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Cambridge, England Cambridge Univ Hosp NHS Fdn Trust, Cambridge, EnglandAllen, D. D.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton, Southampton, Hants, England Cambridge Univ Hosp NHS Fdn Trust, Cambridge, EnglandAgirre, D. Z.论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, England Cambridge Univ Hosp NHS Fdn Trust, Cambridge, EnglandTan, D. S.论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, England Cambridge Univ Hosp NHS Fdn Trust, Cambridge, EnglandGoyal, D. S.论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, England Cambridge Univ Hosp NHS Fdn Trust, Cambridge, England
- [32] Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver surveySEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2022, 97 : 50 - 57Cutts, Alison论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Xenon Pharmaceut Inc, Burnaby, BC, CanadaSavoie, Hillary论文数: 0 引用数: 0 h-index: 0机构: Cute Syndrome Fdn, Troy, NY USA Xenon Pharmaceut Inc, Burnaby, BC, CanadaHammer, Michael F.论文数: 0 引用数: 0 h-index: 0机构: Shay Emma Hammer Res Fdn, Tucson, AZ USA Univ Arizona, Tucson, AZ USA Xenon Pharmaceut Inc, Burnaby, BC, CanadaSchreiber, John论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Washington, DC USA Xenon Pharmaceut Inc, Burnaby, BC, CanadaGrayson, Celene论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Xenon Pharmaceut Inc, Burnaby, BC, CanadaLuzon, Constanza论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Xenon Pharmaceut Inc, Burnaby, BC, CanadaButterfield, Noam论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Xenon Pharmaceut Inc, Burnaby, BC, CanadaPimstone, Simon N.论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Xenon Pharmaceut Inc, Burnaby, BC, CanadaAycardi, Ernesto论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Xenon Pharmaceut Inc, Burnaby, BC, CanadaHarden, Cynthia论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Xenon Pharmaceut Inc, Burnaby, BC, CanadaYonan, Chuck论文数: 0 引用数: 0 h-index: 0机构: Neurocrine Biosci Inc, San Diego, CA USA Xenon Pharmaceut Inc, Burnaby, BC, CanadaJen, Eric论文数: 0 引用数: 0 h-index: 0机构: Neurocrine Biosci Inc, San Diego, CA USA Xenon Pharmaceut Inc, Burnaby, BC, CanadaNguyen, Trung论文数: 0 引用数: 0 h-index: 0机构: Neurocrine Biosci Inc, San Diego, CA USA Xenon Pharmaceut Inc, Burnaby, BC, CanadaCarmack, Tara论文数: 0 引用数: 0 h-index: 0机构: Neurocrine Biosci Inc, San Diego, CA USA Xenon Pharmaceut Inc, Burnaby, BC, CanadaHaubenberger, Dietrich论文数: 0 引用数: 0 h-index: 0机构: Neurocrine Biosci Inc, San Diego, CA USA Xenon Pharmaceut Inc, Burnaby, BC, Canada
- [33] Relationship Between Genetic Variants and Disease Characteristics in Patients with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE) or SCN8A-Related EpilepsyNEUROLOGY, 2021, 96 (15)Haubenberger, Dietrich论文数: 0 引用数: 0 h-index: 0机构: Neurocrine Biosci Inc, San Diego, CA USA Neurocrine Biosci Inc, San Diego, CA USAGrayson, Celene论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Neurocrine Biosci Inc, San Diego, CA USACutts, Alison论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Neurocrine Biosci Inc, San Diego, CA USALuzon, Constanza论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Neurocrine Biosci Inc, San Diego, CA USAButterfield, Noam论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Neurocrine Biosci Inc, San Diego, CA USASavoie, Hillary论文数: 0 引用数: 0 h-index: 0机构: Cute Syndrome Fdn, San Diego, CA USA Neurocrine Biosci Inc, San Diego, CA USAHammer, Michael F.论文数: 0 引用数: 0 h-index: 0机构: Shay Emma Hammer Res Fdn, Tucson, AZ 85721 USA Univ Arizona, Tucson, AZ 85721 USA Neurocrine Biosci Inc, San Diego, CA USASchreiber, John论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Boston, MA USA Neurocrine Biosci Inc, San Diego, CA USAPimstone, Simon N.论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Neurocrine Biosci Inc, San Diego, CA USAAycardi, Ernesto论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Neurocrine Biosci Inc, San Diego, CA USAHarden, Cynthia论文数: 0 引用数: 0 h-index: 0机构: Xenon Pharmaceut Inc, Burnaby, BC, Canada Neurocrine Biosci Inc, San Diego, CA USAJen, Eric论文数: 0 引用数: 0 h-index: 0机构: Neurocrine Biosci Inc, San Diego, CA USA Neurocrine Biosci Inc, San Diego, CA USANguyen, Trung论文数: 0 引用数: 0 h-index: 0机构: Neurocrine Biosci Inc, San Diego, CA USA Neurocrine Biosci Inc, San Diego, CA USA
- [34] Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature reviewSEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2019, 70 : 56 - 58Giacomini, Thea论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, ItalyPisciotta, Livia论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, ItalyPrato, Giulia论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, ItalyMeola, Irene论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, ItalyZara, Federico论文数: 0 引用数: 0 h-index: 0机构: IRCSS Ist Giannina Gaslini, Lab Neurogenet & Neurosci, Genoa, Italy Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, ItalyFiorillo, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Unit Paediat Neurol & Muscular Dis, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, ItalyBaratto, Serena论文数: 0 引用数: 0 h-index: 0机构: IRCSS Ist Giannina Gaslini, Ctr Traslat & Expt Myol, Genoa, Italy Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, ItalySeverino, Mariasavina论文数: 0 引用数: 0 h-index: 0机构: IRCSS Ist Giannina Gaslini, Neuroradiol Unit, Genoa, Italy Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, ItalyDe Grandis, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, ItalyMancardi, Maria Margherita论文数: 0 引用数: 0 h-index: 0机构: IRCSS Ist Giannina Gaslini, Dept Med & Surg Neurosci & Rehabil, Epilepsy Ctr, Unit Child Neuropsychiat, Genoa, Italy Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy
- [35] How far can we go? Whole genome sequencing, periodic reanalysis and international collaborations expands our understanding of the causes of developmental and epileptic encephalopathyEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1431 - 1432Palmer, E. E.论文数: 0 引用数: 0 h-index: 0机构: Genet Learning Disabil GoLD Serv, Waratah, Australia Univ New South Wales, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaSachdev, R.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sydney, NSW, Australia Sydney Childrens Hosp, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaMacintosh, R.论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaKandula, T.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sydney, NSW, Australia Sydney Childrens Hosp, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaMinoche, A.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaPuttick, C.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaGayevskiy, V.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaRoscioli, T.论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Sydney, NSW, Australia NeuRA, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaDinger, M.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaHesson, L.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, Australia论文数: 引用数: h-index:机构:Drew, A.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaDavis, R.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Univ Sydney, Kolling Inst, Sydney, NSW, Australia Royal North Shore Hosp, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaKummerfeld, S.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaCowley, M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Canc Inst, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaBye, A.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sydney, NSW, Australia Sydney Childrens Hosp, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, AustraliaKirk, E.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sydney, NSW, Australia Sydney Childrens Hosp, Sydney, NSW, Australia Genet Learning Disabil GoLD Serv, Waratah, Australia
- [36] Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A)STEM CELL RESEARCH, 2021, 51Rabinski, Tatiana论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Regenerat Med & Stem Cell RMSC Res Ctr, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev, Regenerat Med & Stem Cell RMSC Res Ctr, IL-84105 Beer Sheva, IsraelSagiv, Sivan T.论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Regenerat Med & Stem Cell RMSC Res Ctr, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Dept Physiol & Cell Biol, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev, Regenerat Med & Stem Cell RMSC Res Ctr, IL-84105 Beer Sheva, IsraelHausman-Kedem, Moran论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Dana Dewk Childrens Hosp, Pediat Neurol Inst, Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Ben Gurion Univ Negev, Regenerat Med & Stem Cell RMSC Res Ctr, IL-84105 Beer Sheva, IsraelFattal-Valevski, Aviva论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Dana Dewk Childrens Hosp, Pediat Neurol Inst, Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Ben Gurion Univ Negev, Regenerat Med & Stem Cell RMSC Res Ctr, IL-84105 Beer Sheva, IsraelRubinstein, Moran论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-6997801 Tel Aviv, Israel Tel Aviv Univ, Sagol Neurosci, IL-6997801 Tel Aviv, Israel Tel Aviv Univ, Sheba Med Ctr, Goldschleger Eye Res Inst, IL-52621 Tel Hashomer, Israel Ben Gurion Univ Negev, Regenerat Med & Stem Cell RMSC Res Ctr, IL-84105 Beer Sheva, IsraelAvraham, Karen B.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-6997801 Tel Aviv, Israel Tel Aviv Univ, Sagol Neurosci, IL-6997801 Tel Aviv, Israel Ben Gurion Univ Negev, Regenerat Med & Stem Cell RMSC Res Ctr, IL-84105 Beer Sheva, IsraelVatine, Gad D.论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Regenerat Med & Stem Cell RMSC Res Ctr, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Dept Physiol & Cell Biol, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev, Zlotowski Ctr Neurosci, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev, Regenerat Med & Stem Cell RMSC Res Ctr, IL-84105 Beer Sheva, Israel