RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia
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- 作者：Daniella Nishria ; b ; 1 ; Hadassa Goldberg-Sternc ; h ; 1 ; Iris Noymand ; Lubov Blumkina ; h ; Sara Kivitya ; c ; Hirotomo Saitsue ; Mitsuko Nakashimae ; Naomichi Matsumotoe ; Esther Leshinsky-Silvera ; g ; h ; Tally Lerman-Sagiea ; h ; Dorit Leva ; f ; h ; dorlev@post.tau.ac.il" class="auth_mail" title="E-mail the corresponding author
- 关键词：Epileptic encephalopathy ; RARS2 ; Mitochondrial ; Pontocerebellar hypoplasia
- 刊名：European Journal of Paediatric Neurology
- 出版年：2016
- 出版时间：May 2016
- 年：2016
- 卷：20
- 期：3
- 页码：412-417
- 全文大小：513 K
文摘
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RARS2 gene mutations can cause a metabolic neurodegenerative disease.
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It can manifest as early onset epileptic encephalopathy with post-natal microcephaly.
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The distinctive radiological feature of pontocerebellar hypoplasia is not always present.
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