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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Straub, Jonas; Konrad, Enrico D H; Grüner, Johanna; Toutain, Annick; Bok, Levinus A; Cho, Megan T; Crawford, Heather P; Dubbs, Holly; Douglas, Ganka; Jobling, Rebekah; Johnson, Diana; Krock, Bryan; Mikati, Mohamad A; Nesbitt, Addie; Nicolai, Joost; Phillips, Meredith; Poduri, Annapurna; Ortiz-Gonzalez, Xilma R; Powis, Zöe; Santani, Avni; Smith, Lacey; Stegmann, Alexander P A; Stumpel, Constance; Vreeburg, Maaike; Fliedner, Anna; Gregor, Anne; Sticht, Heinrich; Zweier, Christiane.
Affiliation
  • Straub J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
  • Konrad EDH; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
  • Grüner J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
  • Toutain A; Service de Génétique, Centre Hospitalier Universitaire de Tours, 37044 Tours, France.
  • Bok LA; Department of Pediatrics, Máxima Medical Center, 5504 DB Veldhoven, the Netherlands.
  • Cho MT; GeneDx, Gaithersburg, MD 20877, USA.
  • Crawford HP; Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76102, USA.
  • Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Douglas G; GeneDx, Gaithersburg, MD 20877, USA.
  • Jobling R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Johnson D; Sheffield Children's Hospital, Sheffield S10 2TH, UK.
  • Krock B; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Mikati MA; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA.
  • Nesbitt A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Nicolai J; Department of Neurology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
  • Phillips M; Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76102, USA.
  • Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
  • Ortiz-Gonzalez XR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Pereleman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Powis Z; Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Santani A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Stegmann APA; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
  • Stumpel C; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
  • Vreeburg M; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
  • Fliedner A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
  • Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
  • Sticht H; Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
  • Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address: christiane.zweier@uk-erlangen.de.
Am J Hum Genet ; 102(1): 44-57, 2018 01 04.
Article in En | MEDLINE | ID: mdl-29276004
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Full text: 1 Database: MEDLINE Main subject: GTP-Binding Proteins / Mutation, Missense / Drosophila Proteins / Tumor Suppressor Proteins / Drosophila melanogaster / Epilepsy Limits: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Language: En Year: 2018 Type: Article
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Full text: 1 Database: MEDLINE Main subject: GTP-Binding Proteins / Mutation, Missense / Drosophila Proteins / Tumor Suppressor Proteins / Drosophila melanogaster / Epilepsy Limits: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Language: En Year: 2018 Type: Article