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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange, Iris M; Helbig, Katherine L; Weckhuysen, Sarah; Møller, Rikke S; Velinov, Milen; Dolzhanskaya, Natalia; Marsh, Eric; Helbig, Ingo; Devinsky, Orrin; Tang, Sha; Mefford, Heather C; Myers, Candace T; van Paesschen, Wim; Striano, Pasquale; van Gassen, Koen; van Kempen, Marjan; de Kovel, Carolien G F; Piard, Juliette; Minassian, Berge A; Nezarati, Marjan M; Pessoa, André; Jacquette, Aurelia; Maher, Bridget; Balestrini, Simona; Sisodiya, Sanjay; Warde, Marie Therese Abi; De St Martin, Anne; Chelly, Jamel; van 't Slot, Ruben; Van Maldergem, Lionel; Brilstra, Eva H; Koeleman, Bobby P C.
Afiliação
  • de Lange IM; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Weckhuysen S; Epilepsy Unit, Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, AP-HP, Hôpital de la Pitié Salpêtrière, Centre de reference épilepsies rares, Paris, France.
  • Møller RS; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.
  • Velinov M; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Dolzhanskaya N; Danish Epilepsy Centre, Dianalund, Denmark.
  • Marsh E; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Helbig I; New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.
  • Devinsky O; Albert Einstein College of Medicine, Bronx, New York, USA.
  • Tang S; New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.
  • Mefford HC; Albert Einstein College of Medicine, Bronx, New York, USA.
  • Myers CT; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • van Paesschen W; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Striano P; NYU Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, New York, USA.
  • van Gassen K; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • van Kempen M; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
  • de Kovel CG; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
  • Piard J; Department of Neurology, UZ Leuven, Leuven, Belgium.
  • Minassian BA; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G. Gaslini Institute, University of Genoa, Genova, Italy.
  • Nezarati MM; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Pessoa A; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Jacquette A; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Maher B; Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
  • Balestrini S; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.
  • Sisodiya S; Genetics Program, North York General Hospital and Prenatal Diagnosis & Medical Genetics, Mt. Sinai Hospital, Toronto, Canada.
  • Warde MT; University of Fortaleza, Fortaleza, Brazil.
  • De St Martin A; Service de génétique, GHU Pitié-Salpêtrière, Université Pierre et Marie Curie, Paris, France.
  • Chelly J; UCL Institute of Neurology, London, UK.
  • van 't Slot R; UCL Institute of Neurology, London, UK.
  • Van Maldergem L; Epilepsy Society, Bucks, UK.
  • Brilstra EH; UCL Institute of Neurology, London, UK.
  • Koeleman BP; Epilepsy Society, Bucks, UK.
J Med Genet ; 53(12): 850-858, 2016 12.
Article em En | MEDLINE | ID: mdl-27358180
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Inativação do Cromossomo X / Epilepsia Resistente a Medicamentos / Deficiência Intelectual / Mosaicismo / Proteínas do Tecido Nervoso Idioma: En Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Inativação do Cromossomo X / Epilepsia Resistente a Medicamentos / Deficiência Intelectual / Mosaicismo / Proteínas do Tecido Nervoso Idioma: En Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda