Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
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| Title: | Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. |
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| Authors: | Fry AE; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK. andrew.fry2@wales.nhs.uk.; Institute of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK. andrew.fry2@wales.nhs.uk., Rees E; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, 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; Llwyneryr Unit, Learning Disability Services, Clasemont Road, Morriston, Swansea, SA6 6AH, UK., Jones G; Learning Disabilities Directorate, Abertawe Bro Morgannwg University NHS Trust, Treseder Way, Caerau, Cardiff, CF5 5WF, UK., Morgan S; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, 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; Department of Clinical Genetics, Glan Clwyd Hospital, Betsi Cadwaladr University Health Board, Rhyl, Denbighshire, LL18 5UJ, UK., Clarke A; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.; Institute of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK., Taylor C; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK., Davies S; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK., Gibbon F; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, CF14 4XW, UK., Te Water Naude J; Department of Paediatric Neurology, 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, Morriston Hospital, Abertawe Bro Morgannwg University Health Board, Swansea, SA6 6NL, UK., White C; Department of Paediatric Neurology, Morriston Hospital, Abertawe Bro Morgannwg University Health Board, Swansea, SA6 6NL, UK., Natarajan J; Department of Paediatrics, Royal Glamorgan Hospital, Cwm Taf University Health Board, Pontyclun, Mid Glamorgan, CF72 8XR, UK., Thomas RH; Welsh Epilepsy Centre, Neurosciences Directorate, University Hospital of Wales, Cardiff, CF14 4XW, UK., Drew C; Neurology and Molecular Neuroscience Research, Institute of Life Science, College of Medicine, Swansea University, Swansea, SA2 8PP, UK., Chung SK; Neurology and Molecular Neuroscience Research, Institute of Life Science, College of Medicine, Swansea University, Swansea, SA2 8PP, UK., Rees MI; Neurology and Molecular Neuroscience Research, Institute of Life Science, College of Medicine, Swansea University, Swansea, SA2 8PP, UK., Holmans P; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK., Owen MJ; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, 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; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK., Kerr MP; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.; Learning Disabilities Directorate, Abertawe Bro Morgannwg University NHS Trust, Treseder Way, Caerau, Cardiff, CF5 5WF, UK. |
| Source: | BMC medical genetics [BMC Med Genet] 2016 Apr 26; Vol. 17 (1), pp. 34. Date of Electronic Publication: 2016 Apr 26. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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