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- [1] De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures[J]. FRONTIERS IN NEUROLOGY, 2021, 12Yang, Ping论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Dept Pathol & Lab Med, London, ON, Canada London Hlth Sci Ctr, London, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaBroadbent, Robert论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Dept Pathol & Lab Med, London, ON, Canada London Hlth Sci Ctr, London, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaPrasad, Chitra论文数: 0 引用数: 0 h-index: 0机构: Western Univ, London Hlth Sci Ctr, Dept Paediat, London, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaLevin, Simon论文数: 0 引用数: 0 h-index: 0机构: Western Univ, London Hlth Sci Ctr, Dept Paediat, London, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaGoobie, Sharan论文数: 0 引用数: 0 h-index: 0机构: Izaak Walton Killam Hlth Ctr, Dept Paediat, 4Maritime Med Genet Serv, Halifax, NS, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaKnoll, Joan H.论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Dept Pathol & Lab Med, London, ON, Canada London Hlth Sci Ctr, London, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaPrasad, Asuri N.论文数: 0 引用数: 0 h-index: 0机构: Western Univ, London Hlth Sci Ctr, Dept Paediat, London, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, Canada
- [2] A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype[J]. NEUROREPORT, 2015, 26 (05) : 254 - 257Romaniello, Romina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Eugenio Medea, Inst Sci, Neuropsychiat & Neurorehabil Unit, I-23842 Bosisio Parini, Lecco, Italy IRCCS Eugenio Medea, Inst Sci, Neuropsychiat & Neurorehabil Unit, I-23842 Bosisio Parini, Lecco, Italy论文数: 引用数: h-index:机构:Panzeri, Elena论文数: 0 引用数: 0 h-index: 0机构: IRCCS Eugenio Medea, Inst Sci, Mol Biol Lab, I-23842 Bosisio Parini, Lecco, Italy IRCCS Eugenio Medea, Inst Sci, Neuropsychiat & Neurorehabil Unit, I-23842 Bosisio Parini, Lecco, ItalyArrigoni, Filippo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Eugenio Medea, Inst Sci, Neuroimaging Unit, I-23842 Bosisio Parini, Lecco, Italy IRCCS Eugenio Medea, Inst Sci, Neuropsychiat & Neurorehabil Unit, I-23842 Bosisio Parini, Lecco, ItalyBassi, Maria T.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Eugenio Medea, Inst Sci, Mol Biol Lab, I-23842 Bosisio Parini, Lecco, Italy IRCCS Eugenio Medea, Inst Sci, Neuropsychiat & Neurorehabil Unit, I-23842 Bosisio Parini, Lecco, ItalyBorgatti, Renato论文数: 0 引用数: 0 h-index: 0机构: IRCCS Eugenio Medea, Inst Sci, Neuropsychiat & Neurorehabil Unit, I-23842 Bosisio Parini, Lecco, Italy IRCCS Eugenio Medea, Inst Sci, Neuropsychiat & Neurorehabil Unit, I-23842 Bosisio Parini, Lecco, Italy
- [3] A de novo nonsense mutation of STXBP1 causes early-onset epileptic encephalopathy[J]. EPILEPSY & BEHAVIOR, 2021, 123Suo, Guihai论文数: 0 引用数: 0 h-index: 0机构: Nantong Univ, Dept Pediat, Affiliated Hosp, 20 West Temple Rd, Nantong 226001, Jiangsu, Peoples R China Soochow Univ, Childrens Hosp, Dept Neurol, Suzhou, Peoples R China Nantong Univ, Dept Pediat, Affiliated Hosp, 20 West Temple Rd, Nantong 226001, Jiangsu, Peoples R ChinaCao, Xing论文数: 0 引用数: 0 h-index: 0机构: Nantong Univ, Dept Pediat, Affiliated Hosp, 20 West Temple Rd, Nantong 226001, Jiangsu, Peoples R China Nantong Univ, Dept Pediat, Affiliated Hosp, 20 West Temple Rd, Nantong 226001, Jiangsu, Peoples R ChinaZheng, Yuqin论文数: 0 引用数: 0 h-index: 0机构: Nantong Univ, Dept Pediat, Affiliated Hosp, 20 West Temple Rd, Nantong 226001, Jiangsu, Peoples R China Nantong Univ, Dept Pediat, Affiliated Hosp, 20 West Temple Rd, Nantong 226001, Jiangsu, Peoples R ChinaLi, Haiying论文数: 0 引用数: 0 h-index: 0机构: Nantong Univ, Dept Pediat, Affiliated Hosp, 20 West Temple Rd, Nantong 226001, Jiangsu, Peoples R China Nantong Univ, Dept Pediat, Affiliated Hosp, 20 West Temple Rd, Nantong 226001, Jiangsu, Peoples R ChinaZhang, Qi论文数: 0 引用数: 0 h-index: 0机构: Nantong Univ, Key Lab Neuroregenerat, Jiangsu & Minist Educ, Coinnovat Ctr Neuroregenerat, Nantong, Peoples R China Nantong Univ, Dept Pediat, Affiliated Hosp, 20 West Temple Rd, Nantong 226001, Jiangsu, Peoples R ChinaTang, Jihong论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Childrens Hosp, Dept Neurol, Suzhou, Peoples R China Nantong Univ, Dept Pediat, Affiliated Hosp, 20 West Temple Rd, Nantong 226001, Jiangsu, Peoples R ChinaWu, Youjia论文数: 0 引用数: 0 h-index: 0机构: Nantong Univ, Dept Pediat, Affiliated Hosp, 20 West Temple Rd, Nantong 226001, Jiangsu, Peoples R China Nantong Univ, Dept Pediat, Affiliated Hosp, 20 West Temple Rd, Nantong 226001, Jiangsu, Peoples R China
- [4] De novo STXBP1 mutation in a child with hypotonia, intellectual disability, tremor and without epilepsy[J]. NEUROLOGY ASIA, 2023, 28 (02) : 417 - 420Yimenicioglu, Sevgi论文数: 0 引用数: 0 h-index: 0机构: Hlth Minist Eskisehir City Hosp, Dept Child Neurol, 71 Evler Mahallesi, Eskisehir 26080, Turkiye Hlth Minist Eskisehir City Hosp, Dept Child Neurol, 71 Evler Mahallesi, Eskisehir 26080, TurkiyeKocaaga, Ayca论文数: 0 引用数: 0 h-index: 0机构: Hlth Minist Eskisehir City Hosp, Dept Med Genet, Eskisehir, Turkiye Hlth Minist Eskisehir City Hosp, Dept Child Neurol, 71 Evler Mahallesi, Eskisehir 26080, Turkiye
- [5] De Novo STXBP1 Mutations in Mental Retardation and Nonsyndromic Epilepsy[J]. ANNALS OF NEUROLOGY, 2009, 65 (06) : 748 - 753Hamdan, Fadi F.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, Canada Univ Montreal, Ctr Excellence Neur, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaPiton, Amelie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada CHU Montreal, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaGauthier, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada CHU Montreal, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaLortie, Anne论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, Canada Univ Montreal, Ctr Excellence Neur, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaDubeau, Francois论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst, Dept Neurol & Neurosurg, Montreal, PQ H3A 2B4, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaDobrzeniecka, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada CHU Montreal, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaSpiegelman, Dan论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada CHU Montreal, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaNoreau, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada CHU Montreal, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaPellerin, Stephanie论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, Canada Univ Montreal, Ctr Excellence Neur, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaCote, Melanie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada CHU Montreal, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaHenrion, Edouard论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada CHU Montreal, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaFombonne, Eric论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Dept Psychiat, Montreal, PQ H3A 2B4, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaMottron, Laurent论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Hop Riviere des Prairies, Ctr Rech Fernand Seguin, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaMarineau, Claude论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada CHU Montreal, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaDrapeau, Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Pathol & Cell Biol, Grp Rech Syst Nerveux Cent, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaLafreniere, Ronald G.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada CHU Montreal, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaLacaille, Jean Claude论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Physiol, Grp Rech Syst Nerveux Cent, Montreal, PQ H3C 3J7, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaRouleau, Guy A.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada CHU Montreal, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, CanadaMichaud, Jacques L.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, Canada Univ Montreal, Ctr Excellence Neur, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp, Montreal, PQ H3T 1C5, Canada
- [6] Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation: A case report and literature review[J]. MEDICINE, 2018, 97 (18)Liu, Shunli论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20 Ren Min Nan Rd, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Minist Educ, Key Lab Obstet & Gynecol & Pediat Dis & Birth Def, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20 Ren Min Nan Rd, Chengdu 610041, Sichuan, Peoples R ChinaWang, Liyuan论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20 Ren Min Nan Rd, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Minist Educ, Key Lab Obstet & Gynecol & Pediat Dis & Birth Def, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20 Ren Min Nan Rd, Chengdu 610041, Sichuan, Peoples R ChinaCai, Xiao Tang论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20 Ren Min Nan Rd, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Minist Educ, Key Lab Obstet & Gynecol & Pediat Dis & Birth Def, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20 Ren Min Nan Rd, Chengdu 610041, Sichuan, Peoples R ChinaZhou, Hui论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20 Ren Min Nan Rd, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Minist Educ, Key Lab Obstet & Gynecol & Pediat Dis & Birth Def, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20 Ren Min Nan Rd, Chengdu 610041, Sichuan, Peoples R ChinaYu, Dan论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20 Ren Min Nan Rd, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Minist Educ, Key Lab Obstet & Gynecol & Pediat Dis & Birth Def, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20 Ren Min Nan Rd, Chengdu 610041, Sichuan, Peoples R ChinaWang, Zhiling论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20 Ren Min Nan Rd, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Minist Educ, Key Lab Obstet & Gynecol & Pediat Dis & Birth Def, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20 Ren Min Nan Rd, Chengdu 610041, Sichuan, Peoples R China
- [7] STXBP1: CLINICAL AND GENETIC DESCRIPTION OF 39 NEW PATIENTS WITH AN STXBP1 MUTATION AND REVIEW OF LITERATURE[J]. EPILEPSIA, 2015, 56 : 220 - 220论文数: 引用数: h-index:机构:Nikanorova, M.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Univ Childrens Hosp, Inselspital, Div Human Genet, Bern, Switzerland 19Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark VIB DMG, Neurogenet Grp, Antwerp, BelgiumWillemsen, M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands VIB DMG, Neurogenet Grp, Antwerp, BelgiumFjaer, R.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Med Genet, Oslo, Norway VIB DMG, Neurogenet Grp, Antwerp, BelgiumRamsey, K.论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Neurogen Div, Phoenix, AZ USA VIB DMG, Neurogenet Grp, Antwerp, BelgiumViri, M.论文数: 0 引用数: 0 h-index: 0机构: Fatebenefratelli & Oftalm Hosp, Pediat Neurol Unit, Milan, Italy Epilepsy Ctr, Dept Neurosci, Milan, Italy VIB DMG, Neurogenet Grp, Antwerp, BelgiumSterbova, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, Child Neurol Dept, Prague, Czech Republic VIB DMG, Neurogenet Grp, Antwerp, BelgiumWolf, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Pediat Neurol, Tubingen, Germany VIB DMG, Neurogenet Grp, Antwerp, BelgiumVerhelst, H.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Pediat, Div Pediat Neurol & Metab, Ghent, Belgium VIB DMG, Neurogenet Grp, Antwerp, BelgiumBenkel, I.论文数: 0 引用数: 0 h-index: 0机构: Sana Krankenhaus Gerresheim, Dept Neuropediat, Dusseldorf, Germany VIB DMG, Neurogenet Grp, Antwerp, BelgiumFannemel, M.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway VIB DMG, Neurogenet Grp, Antwerp, BelgiumMuehle, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Kiel, Dept Neuropediat, Univ Med Ctr Schleswig Holstein, Kiel, Germany VIB DMG, Neurogenet Grp, Antwerp, BelgiumCasara, G.论文数: 0 引用数: 0 h-index: 0机构: Cent Hosp Bolzano, Neurol Unit & Labs, Bolzano, Italy VIB DMG, Neurogenet Grp, Antwerp, BelgiumVan Coster, R.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Pediat, Div Pediat Neurol & Metab, Ghent, Belgium VIB DMG, Neurogenet Grp, Antwerp, BelgiumAngriman, M.论文数: 0 引用数: 0 h-index: 0机构: Cent Hosp Bolzano, Neurol Unit & Labs, Bolzano, Italy VIB DMG, Neurogenet Grp, Antwerp, BelgiumLederer, D.论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Gosseliers, Belgium VIB DMG, Neurogenet Grp, Antwerp, BelgiumDe Jonghe, P.论文数: 0 引用数: 0 h-index: 0机构: VIB DMG, Neurogenet Grp, Antwerp, Belgium Univ Hosp Leipzig, Inst Human Genet, Leipzig, Germany VIB DMG, Neurogenet Grp, Antwerp, BelgiumStriano, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci, Inst G Gaslini, Pediat Neurol & Neuromuscular Dis Unit, Genoa, Italy VIB DMG, Neurogenet Grp, Antwerp, BelgiumLemke, J.论文数: 0 引用数: 0 h-index: 0机构: VIB DMG, Neurogenet Grp, Antwerp, BelgiumMoller, R. S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Univ Childrens Hosp, Inselspital, Div Human Genet, Bern, Switzerland 19Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark VIB DMG, Neurogenet Grp, Antwerp, BelgiumWeckhuysen, S.论文数: 0 引用数: 0 h-index: 0机构: VIB DMG, Neurogenet Grp, Antwerp, Belgium Hop La Pitie Salpetriere, Inst Cerveau & Moelle Epiniere, Paris, France VIB DMG, Neurogenet Grp, Antwerp, Belgium
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