RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

European Journal of Paediatric Neurology - Tập 20 Số 3 - Trang 412-417 - 2016
Daniella Nishri1,2, Hadassa Goldberg‐Stern3,4, Iris Noyman5, Lubov Blumkin2,4, Sara Kivity3,2, Hirotomo Saitsu6, Mitsuko Nakashima6, Naomichi Matsumoto6, Snezana Maljevic2,7,4, Tally Lerman‐Sagie2,4, Dorit Lev8,2,4
1Child Development Center, Central District, Maccabi Health Services, Tel Aviv, Israel
2Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel
3Epilepsy Center, Schneider's Children Medical Center, Petah Tiqwa, Israel
4Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
5Pediatric Neurology Unit, Soroka Medical Center, Beer-Sheba, Israel
6Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan
7Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel
8Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel

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