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Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
Palmer, Elizabeth E; Jarrett, Kelsey E; Sachdev, Rani K; Al Zahrani, Fatema; Hashem, Mais Omar; Ibrahim, Niema; Sampaio, Hugo; Kandula, Tejaswi; Macintosh, Rebecca; Gupta, Rajat; Conlon, Donna M; Billheimer, Jeffrey T; Rader, Daniel J; Funato, Kouichi; Walkey, Christopher J; Lee, Chang Seok; Loo, Christine; Brammah, Susan; Elakis, George; Zhu, Ying; Buckley, Michael; Kirk, Edwin P; Bye, Ann; Alkuraya, Fowzan S; Roscioli, Tony; Lagor, William R.
Affiliation
  • Palmer EE; Department of Women and Children's Health, Randwick Campus, University of New South Wales, NSW 2031, Australia.
  • Jarrett KE; Genetics of Learning Disability Service, Waratah, NSW 2298, Australia.
  • Sachdev RK; Department of Molecular Physiology and Biophysics.
  • Al Zahrani F; Integrative Molecular and Biomedical Sciences Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hashem MO; Department of Women and Children's Health, Randwick Campus, University of New South Wales, NSW 2031, Australia.
  • Ibrahim N; Sydney Children's Hospital, Randwick, NSW 2031, Australia.
  • Sampaio H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Kandula T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Macintosh R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Gupta R; Department of Women and Children's Health, Randwick Campus, University of New South Wales, NSW 2031, Australia.
  • Conlon DM; Sydney Children's Hospital, Randwick, NSW 2031, Australia.
  • Billheimer JT; Department of Women and Children's Health, Randwick Campus, University of New South Wales, NSW 2031, Australia.
  • Rader DJ; Sydney Children's Hospital, Randwick, NSW 2031, Australia.
  • Funato K; Sydney Children's Hospital, Randwick, NSW 2031, Australia.
  • Walkey CJ; Department of Molecular Physiology and Biophysics.
  • Lee CS; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Loo C; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Brammah S; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Elakis G; Department of Biofunctional Science and Technology, Graduate School of Biosphere Science, Hiroshima University, 1-4-4 Kagamiyam, Higashi-Hiroshima 739-8528, Japan.
  • Zhu Y; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Buckley M; Department of Molecular Physiology and Biophysics.
  • Kirk EP; Department of Women and Children's Health, Randwick Campus, University of New South Wales, NSW 2031, Australia.
  • Bye A; SEALS pathology, Randwick, NSW 2031, Australia.
  • Alkuraya FS; Electron Microscope Unit, Concord Repatriation General Hospital, Concord, NSW 2139, Australia.
  • Roscioli T; SEALS pathology, Randwick, NSW 2031, Australia.
  • Lagor WR; Genetics of Learning Disability Service, Waratah, NSW 2298, Australia.
Hum Mol Genet ; 25(14): 3042-3054, 2016 07 15.
Article in En | MEDLINE | ID: mdl-27270415
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Carrier Proteins / Genetic Predisposition to Disease / Membrane Proteins Type of study: Etiology_studies / Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Australia Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Carrier Proteins / Genetic Predisposition to Disease / Membrane Proteins Type of study: Etiology_studies / Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Australia Country of publication: United kingdom