دورية أكاديمية
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A ; Epilepsia
| العنوان: | Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A ; Epilepsia |
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| المؤلفون: | Møller, R., Schneider, L., Hansen, C., Bugge, M., Ullmann, R., Tommerup, N., Tümer, Z. |
| المصدر: | Epilepsia |
| سنة النشر: | 2008 |
| المجموعة: | Max Planck Society: MPG.PuRe |
| الوصف: | In a patient with severe myoclonic epilepsy of infancy (SMEI), we identified a de novo balanced translocation, t(2;5)(q24.3,q34). The breakpoint on chromosome 2q24.3 truncated the SCN1A gene and the 5q34 breakpoint was within a highly conserved genomic region. Point mutations or microdeletions of SCN1A have previously been identified in SMEI patients, but this is the first report of a balanced translocation disrupting the SCN1A gene in an epilepsy patient. We therefore recommend that SMEI patients without SCN1A microdeletions or point mutations should be investigated for chromosomal rearrangements. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/urn/http://www3.interscience.wiley.com/cgi-bin/fulltext/120084196/PDFSTARTTest; http://hdl.handle.net/11858/00-001M-0000-0010-8054-FTest; http://hdl.handle.net/11858/00-001M-0000-0010-8053-2Test |
| الإتاحة: | https://doi.org/10.1111/j.1528-1167.2008.01550.xTest http://hdl.handle.net/11858/00-001M-0000-0010-8054-FTest http://hdl.handle.net/11858/00-001M-0000-0010-8053-2Test |
| حقوق: | info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.6691165F |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |