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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

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第一作者: Muona, Mikko
作者单位: Harvard Univ, Sch Med, Boston, MA USA [1] Balochistan Univ Informat Technol Engn & Manageme, Dept Biotechnol & Informat, Quetta, Pakistan [2] Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey [3] Magna Graecia Univ Catanzaro, Inst Neurol, Catanzaro, Italy [4] Univ Naples Federico II, Dept Neurosci Reprod Sci & Odontostomatol, Naples, Italy [5] McGill Univ, Montreal Neurol Inst, Quebec City, PQ, Canada [6] Univ Malta, Dept Anat & Cell Biol, Msida, Malta [7] Univ Melbourne, Epilepsy Res Ctr, Dept Med, Austin Hlth, Heidelberg, Vic, Australia [8] Univ Cincinnati, Gardner Ctr Parkinson Dis & Movement Disorders, Cincinnati, OH USA [9] Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA [10] Klinikum Links Weser, Bremen, Germany [11] IRCCS, C Besta Fdn Neurol Inst, Dept Neurophysiopathol, Milan, Italy [12] Magna Graecia Univ Catanzaro, Dept Med & Surg Sci, Catanzaro, Italy [13] Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Tubingen, Germany [14] Danish Epilepsy Ctr, Dianalund, Denmark [15] Univ Bergen, Dept Clin Med, Bergen, Norway [16] Miami Childrens Hosp, Inst Brain, Miami, FL USA [17] Univ Toronto, Toronto Western Hosp, Dept Med, Krembil Neurosci Program, Toronto, ON M5T 2S8, Canada [18] Schneider Childrens Med Ctr Israel, Child Neurol Inst, Neurogenet Clin, Petah Tiqvah, Israel [19] Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany [20] Hop Gui de Chauliac, Epilepsy Unit, Montpellier, France [21] Folkhalsan Inst Genet, Helsinki, Finland [22] Istanbul Univ, Cerrahpasa Med Fac, Dept Neurol, Istanbul, Turkey [23] IRCCS, C Besta Fdn Neurol Inst, Dev Neurol Unit, Milan, Italy [24] Epilepsy Ctr Hamburg Alsterdorf, Dept Neurol & Epileptol, Hamburg, Germany [25] Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia [26] Univ Cincinnati, Epilepsy Ctr, Inst Neurosci, Cincinnati, OH USA [27] Mayo Hosp, Dept Med, Lahore, Pakistan [28] Hacettepe Univ, Fac Med, Dept Pediat, Div Pediat Neurol, TR-06100 Ankara, Turkey [29] IRCCS, Bellaria Hosp, Inst Neurol Sci Bologna, Neurol Unit, Bologna, Italy [30] Univ S Australia, Sch Pharm & Med Sci, Adelaide, SA 5001, Australia [31] Univ Helsinki, Inst Mol Med Finland, Helsinki, Finland [32] Ctr Hosp Sao Joao, Dept Neurol, Oporto, Portugal [33] Tel Aviv Univ, Sackler Sch Med, Ramat Aviv, Israel [34] Temple St Childrens Univ Hosp, Dept Neurol, Dublin, Ireland [35]
发布时间 2017-04-06
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Nature Genetics

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