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 |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 27113213 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Fry+AE%22">Fry AE</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rees+E%22">Rees E</searchLink>; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.<br /><searchLink fieldCode="AU" term="%22Thompson+R%22">Thompson R</searchLink>; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.<br /><searchLink fieldCode="AU" term="%22Mantripragada+K%22">Mantripragada K</searchLink>; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.<br /><searchLink fieldCode="AU" term="%22Blake+P%22">Blake P</searchLink>; Llwyneryr Unit, Learning Disability Services, Clasemont Road, Morriston, Swansea, SA6 6AH, UK.<br /><searchLink fieldCode="AU" term="%22Jones+G%22">Jones G</searchLink>; Learning Disabilities Directorate, Abertawe Bro Morgannwg University NHS Trust, Treseder Way, Caerau, Cardiff, CF5 5WF, UK.<br /><searchLink fieldCode="AU" term="%22Morgan+S%22">Morgan S</searchLink>; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22Jose+S%22">Jose S</searchLink>; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22Mugalaasi+H%22">Mugalaasi H</searchLink>; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22Archer+H%22">Archer H</searchLink>; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22McCann+E%22">McCann E</searchLink>; Department of Clinical Genetics, Glan Clwyd Hospital, Betsi Cadwaladr University Health Board, Rhyl, Denbighshire, LL18 5UJ, UK.<br /><searchLink fieldCode="AU" term="%22Clarke+A%22">Clarke A</searchLink>; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.; Institute of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK.<br /><searchLink fieldCode="AU" term="%22Taylor+C%22">Taylor C</searchLink>; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22Davies+S%22">Davies S</searchLink>; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22Gibbon+F%22">Gibbon F</searchLink>; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22Te+Water+Naude+J%22">Te Water Naude J</searchLink>; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22Hartley+L%22">Hartley L</searchLink>; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22Thomas+G%22">Thomas G</searchLink>; Department of Paediatric Neurology, Morriston Hospital, Abertawe Bro Morgannwg University Health Board, Swansea, SA6 6NL, UK.<br /><searchLink fieldCode="AU" term="%22White+C%22">White C</searchLink>; Department of Paediatric Neurology, Morriston Hospital, Abertawe Bro Morgannwg University Health Board, Swansea, SA6 6NL, UK.<br /><searchLink fieldCode="AU" term="%22Natarajan+J%22">Natarajan J</searchLink>; Department of Paediatrics, Royal Glamorgan Hospital, Cwm Taf University Health Board, Pontyclun, Mid Glamorgan, CF72 8XR, UK.<br /><searchLink fieldCode="AU" term="%22Thomas+RH%22">Thomas RH</searchLink>; Welsh Epilepsy Centre, Neurosciences Directorate, University Hospital of Wales, Cardiff, CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22Drew+C%22">Drew C</searchLink>; Neurology and Molecular Neuroscience Research, Institute of Life Science, College of Medicine, Swansea University, Swansea, SA2 8PP, UK.<br /><searchLink fieldCode="AU" term="%22Chung+SK%22">Chung SK</searchLink>; Neurology and Molecular Neuroscience Research, Institute of Life Science, College of Medicine, Swansea University, Swansea, SA2 8PP, UK.<br /><searchLink fieldCode="AU" term="%22Rees+MI%22">Rees MI</searchLink>; Neurology and Molecular Neuroscience Research, Institute of Life Science, College of Medicine, Swansea University, Swansea, SA2 8PP, UK.<br /><searchLink fieldCode="AU" term="%22Holmans+P%22">Holmans P</searchLink>; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.<br /><searchLink fieldCode="AU" term="%22Owen+MJ%22">Owen MJ</searchLink>; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.<br /><searchLink fieldCode="AU" term="%22Kirov+G%22">Kirov G</searchLink>; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, CF24 4HQ, UK.<br /><searchLink fieldCode="AU" term="%22Pilz+DT%22">Pilz DT</searchLink>; Institute of Medial Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22Kerr+MP%22">Kerr MP</searchLink>; 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. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22100968552%22">BMC medical genetics</searchLink> [BMC Med Genet] 2016 Apr 26; Vol. 17 (1), pp. 34. <i>Date of Electronic Publication: </i>2016 Apr 26. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100968552 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2350 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712350%22">14712350 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=27113213 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12881-016-0294-2 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 34 Titles: – TitleFull: Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Fry AE – PersonEntity: Name: NameFull: Rees E – PersonEntity: Name: NameFull: Thompson R – PersonEntity: Name: NameFull: Mantripragada K – PersonEntity: Name: NameFull: Blake P – PersonEntity: Name: NameFull: Jones G – PersonEntity: Name: NameFull: Morgan S – PersonEntity: Name: NameFull: Jose S – PersonEntity: Name: NameFull: Mugalaasi H – PersonEntity: Name: NameFull: Archer H – PersonEntity: Name: NameFull: McCann E – PersonEntity: Name: NameFull: Clarke A – PersonEntity: Name: NameFull: Taylor C – PersonEntity: Name: NameFull: Davies S – PersonEntity: Name: NameFull: Gibbon F – PersonEntity: Name: NameFull: Te Water Naude J – PersonEntity: Name: NameFull: Hartley L – PersonEntity: Name: NameFull: Thomas G – PersonEntity: Name: NameFull: White C – PersonEntity: Name: NameFull: Natarajan J – PersonEntity: Name: NameFull: Thomas RH – PersonEntity: Name: NameFull: Drew C – PersonEntity: Name: NameFull: Chung SK – PersonEntity: Name: NameFull: Rees MI – PersonEntity: Name: NameFull: Holmans P – PersonEntity: Name: NameFull: Owen MJ – PersonEntity: Name: NameFull: Kirov G – PersonEntity: Name: NameFull: Pilz DT – PersonEntity: Name: NameFull: Kerr MP IsPartOfRelationships: – BibEntity: Dates: – D: 26 M: 04 Text: 2016 Apr 26 Type: published Y: 2016 Identifiers: – Type: issn-electronic Value: 1471-2350 Numbering: – Type: volume Value: 17 – Type: issue Value: 1 Titles: – TitleFull: BMC medical genetics Type: main |
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