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Juvenile myoclonic epilepsy : characterisation of the syndrome and examination of linkage to the HLA locus in families from the Western Cape
The primary purpose of this study was the identification of patients with JME, in order to identify suitable families for studying the nature of the linkage of the syndrome of JME to the HLA (Human Leukocyte Antigen) locus. This search for suitable candidate families necessitated examination of a la...
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
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Department of Medicine
2020
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| _version_ | 1867613276288843776 |
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| access_status_str | Open Access |
| author | Carr, Jonathan Ambrose |
| author2 | Eastman, Roland |
| author_browse | Carr, Jonathan Ambrose Eastman, Roland |
| author_facet | Eastman, Roland Carr, Jonathan Ambrose |
| author_sort | Carr, Jonathan Ambrose |
| collection | Thesis |
| description | The primary purpose of this study was the identification of patients with JME, in order to identify suitable families for studying the nature of the linkage of the syndrome of JME to the HLA (Human Leukocyte Antigen) locus. This search for suitable candidate families necessitated examination of a large number of individuals with a range of IGE syndromes, and patients were classified into these various syndromes. Patients with JME were thereafter investigated further. The study could thus be broken up into three sections: i) Determination of the various syndromes of IGE. ii) Characterisation of JME. iii) Linkage Studies on JME patients. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/31753 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:33:33.643Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2020 |
| publishDateRange | 2020 |
| publishDateSort | 2020 |
| publisher | Department of Medicine |
| publisherStr | Department of Medicine |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/31753 Juvenile myoclonic epilepsy : characterisation of the syndrome and examination of linkage to the HLA locus in families from the Western Cape Carr, Jonathan Ambrose Eastman, Roland Epilepsy The primary purpose of this study was the identification of patients with JME, in order to identify suitable families for studying the nature of the linkage of the syndrome of JME to the HLA (Human Leukocyte Antigen) locus. This search for suitable candidate families necessitated examination of a large number of individuals with a range of IGE syndromes, and patients were classified into these various syndromes. Patients with JME were thereafter investigated further. The study could thus be broken up into three sections: i) Determination of the various syndromes of IGE. ii) Characterisation of JME. iii) Linkage Studies on JME patients. 2020-05-02T14:45:27Z 2020-05-02T14:45:27Z 1997 2020-04-30T09:07:44Z Master Thesis Masters https://hdl.handle.net/11427/31753 eng application/pdf Department of Medicine Faculty of Health Sciences |
| spellingShingle | Epilepsy Carr, Jonathan Ambrose Juvenile myoclonic epilepsy : characterisation of the syndrome and examination of linkage to the HLA locus in families from the Western Cape |
| thesis_degree_str | Master's |
| title | Juvenile myoclonic epilepsy : characterisation of the syndrome and examination of linkage to the HLA locus in families from the Western Cape |
| title_full | Juvenile myoclonic epilepsy : characterisation of the syndrome and examination of linkage to the HLA locus in families from the Western Cape |
| title_fullStr | Juvenile myoclonic epilepsy : characterisation of the syndrome and examination of linkage to the HLA locus in families from the Western Cape |
| title_full_unstemmed | Juvenile myoclonic epilepsy : characterisation of the syndrome and examination of linkage to the HLA locus in families from the Western Cape |
| title_short | Juvenile myoclonic epilepsy : characterisation of the syndrome and examination of linkage to the HLA locus in families from the Western Cape |
| title_sort | juvenile myoclonic epilepsy characterisation of the syndrome and examination of linkage to the hla locus in families from the western cape |
| topic | Epilepsy |
| url | https://hdl.handle.net/11427/31753 |
| work_keys_str_mv | AT carrjonathanambrose juvenilemyoclonicepilepsycharacterisationofthesyndromeandexaminationoflinkagetothehlalocusinfamiliesfromthewesterncape |