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Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Fry, Andrew E; Rees, Elliott; Thompson, Rose; Mantripragada, Kiran; Blake, Penny; Jones, Glyn; Morgan, Sian; Jose, Sian; Mugalaasi, Hood; Archer, Hayley; McCann, Emma; Clarke, Angus; Taylor, Clare; Davies, Sally; Gibbon, Frances; Te Water Naude, Johann; Hartley, Louise; Thomas, Gareth; White, Catharine; Natarajan, Jaya; Thomas, Rhys H; Drew, Cheney; Chung, Seo-Kyung; Rees, Mark I; Holmans, Peter; Owen, Michael J; Kirov, George; Pilz, Daniela T; Kerr, Michael P.
Affiliation
  • Fry AE; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK. andrew.fry2@wales.nhs.uk.
  • Rees E; Institute of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK. andrew.fry2@wales.nhs.uk.
  • Thompson R; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.
  • Mantripragada K; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.
  • Blake P; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.
  • Jones G; Llwyneryr Unit, Learning Disability Services, Clasemont Road, Morriston, Swansea, SA6 6AH, UK.
  • Morgan S; Learning Disabilities Directorate, Abertawe Bro Morgannwg University NHS Trust, Treseder Way, Caerau, Cardiff, CF5 5WF, UK.
  • Jose S; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.
  • Mugalaasi H; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.
  • Archer H; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.
  • McCann E; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.
  • Clarke A; Department of Clinical Genetics, Glan Clwyd Hospital, Betsi Cadwaladr University Health Board, Rhyl, Denbighshire, LL18 5UJ, UK.
  • Taylor C; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.
  • Davies S; Institute of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK.
  • Gibbon F; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.
  • Te Water Naude J; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.
  • Hartley L; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, CF14 4XW, UK.
  • Thomas G; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, CF14 4XW, UK.
  • White C; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, CF14 4XW, UK.
  • Natarajan J; Department of Paediatric Neurology, Morriston Hospital, Abertawe Bro Morgannwg University Health Board, Swansea, SA6 6NL, UK.
  • Thomas RH; Department of Paediatric Neurology, Morriston Hospital, Abertawe Bro Morgannwg University Health Board, Swansea, SA6 6NL, UK.
  • Drew C; Department of Paediatrics, Royal Glamorgan Hospital, Cwm Taf University Health Board, Pontyclun, Mid Glamorgan, CF72 8XR, UK.
  • Chung SK; Welsh Epilepsy Centre, Neurosciences Directorate, University Hospital of Wales, Cardiff, CF14 4XW, UK.
  • Rees MI; Neurology and Molecular Neuroscience Research, Institute of Life Science, College of Medicine, Swansea University, Swansea, SA2 8PP, UK.
  • Holmans P; Neurology and Molecular Neuroscience Research, Institute of Life Science, College of Medicine, Swansea University, Swansea, SA2 8PP, UK.
  • Owen MJ; Neurology and Molecular Neuroscience Research, Institute of Life Science, College of Medicine, Swansea University, Swansea, SA2 8PP, UK.
  • Kirov G; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.
  • Pilz DT; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.
  • Kerr MP; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.
BMC Med Genet ; 17(1): 34, 2016 04 26.
Article in En | MEDLINE | ID: mdl-27113213
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sequence Deletion / Epilepsy / DNA Copy Number Variations / NAV1.1 Voltage-Gated Sodium Channel / Intellectual Disability Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sequence Deletion / Epilepsy / DNA Copy Number Variations / NAV1.1 Voltage-Gated Sodium Channel / Intellectual Disability Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom