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A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.

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第一作者： Fulya,Akçimen

第一单位： Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

作者： Fulya,Akçimen ^[1] ; Pilar,Alvarez Jerez ^[2] ; Ulviyya,Guliyeva ^[3] ; Jasmine,Lee ^[4] ; Laksh,Malik ^[5] ; Breeana,Baker ^[5] ; Kamran,Salayev ^[3] ; Sughra,Guliyeva ^[3] ; Kimberley J,Billingsley ^[6] ; Henry,Houlden ^[7] ; Andrew B,Singleton ^[6] ; Cornelis,Blauwendraat ^[6] ; Sara,Bandres-Ciga ^[5] ; Rauan,Kaiyrzhanov ^[7]

作者单位： Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA. ^[1] Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, Maryland, USA.;Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK. ^[2] MediClub Hospital, Baku, Azerbaijan. ^[3] Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK. ^[4] Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, Maryland, USA. ^[5] Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.;Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, Maryland, USA. ^[6] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK. ^[7]

关键词 CSNK1E incomplete penetrance progressive myoclonic epilepsy short tandem repeats