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A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.
Orenstein, Naama; Goldberg-Stern, Hadassa; Straussberg, Rachel; Bazak, Lily; Weisz Hubshman, Monika; Kropach, Nesia; Gilad, Oded; Scheuerman, Oded; Dory, Yahav; Kraus, Dror; Tzur, Shay; Magal, Nurit; Kilim, Yael; Shkalim Zemer, Vered; Basel-Salmon, Lina.
Affiliation
  • Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel. Electronic address: naamaor@clalit.org.il.
  • Goldberg-Stern H; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Pediatric Epilepsy Unit, Neurological Institute, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Is
  • Straussberg R; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Neurogenetic Service, Neurological Institute, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israe
  • Bazak L; Raphael Recanati Genetics Institute, Rabin Medical Center- Beilinson Hospital, Petach Tikva 4941492, Israel; Mina and Everard Goodman Faculty of Life Science, Bar Ilan University, Ramat Gan 5290002, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva 4941492, Israel. Elec
  • Weisz Hubshman M; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Raphael Recanati Genetics Institute, Rabin Medical Center- Beilinson Hospital, Petach Tikva 4941492, Israel; Felsenstein
  • Kropach N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel. Electronic address: NesyaKr@clalit.org.il.
  • Gilad O; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel. Electronic address: OdedGi@clalit.org.il.
  • Scheuerman O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel. Electronic address: odedshv@clalit.org.il.
  • Dory Y; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel. Electronic address: yahavdory@yahoo.com.
  • Kraus D; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Pediatric Epilepsy Unit, Neurological Institute, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Is
  • Tzur S; Mina and Everard Goodman Faculty of Life Science, Bar Ilan University, Ramat Gan 5290002, Israel; Laboratory of Molecular Medicine, Rambam Health Care Campus, Haifa 3109601, Israel; Genomic Research Department, Emedgene Technologies, Tel Aviv, Israel. Electronic address: shaytzur@gmail.com.
  • Magal N; Raphael Recanati Genetics Institute, Rabin Medical Center- Beilinson Hospital, Petach Tikva 4941492, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva 4941492, Israel. Electronic address: NMagal@clalit.org.il.
  • Kilim Y; Raphael Recanati Genetics Institute, Rabin Medical Center- Beilinson Hospital, Petach Tikva 4941492, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva 4941492, Israel. Electronic address: yaelki2@clalit.org.il.
  • Shkalim Zemer V; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel. Electronic address: shine6@walla.co.il.
  • Basel-Salmon L; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Raphael Recanati Genetics Institute, Rabin Medical Center- Beilinson Hospital, Petach Tikva 4941492, Israel; Felsenstein
Eur J Paediatr Neurol ; 22(3): 516-524, 2018 May.
Article in En | MEDLINE | ID: mdl-29422393
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chorea / Epilepsy, Generalized / Receptors, GABA-A Type of study: Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2018 Document type: Article Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chorea / Epilepsy, Generalized / Receptors, GABA-A Type of study: Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2018 Document type: Article Country of publication: Reino Unido