Biallelic pathogenic variants in RARS2 cause Progressive Myoclonus Epilepsy and variable epilepsy phenotype

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作者
Licchetta, Laura [1 ,2 ]
Di Vito, Lidia [1 ,2 ]
Minardi, Raffaella [1 ,2 ]
Ricci, Emilia [3 ]
Di Pisa, Veronica [3 ]
Palombo, Flavia [1 ,2 ]
Garone, Caterina [1 ,2 ,3 ]
Bisulli, Francesca [1 ,2 ,4 ]
Carelli, Valerio [1 ,2 ,4 ]
Cordelli, Duccio Maria [1 ,2 ,3 ]
Tinuper, Paolo [1 ,2 ,4 ]
机构
[1] Ist Sci Neurol Bologna, IRCCS, Bologna, Italy
[2] European Reference Network EpiCARE, Bologna, Italy
[3] Univ Bologna, St Orsola Malpighi Univ Hosp, Dept Med & Surg Sci, Bologna, Italy
[4] Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy
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R74 [神经病学与精神病学];
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摘要
181
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页码:208 / 209
页数:2
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