دورية أكاديمية
DELETION OF THE POTASSIUM CHANNEL GENE KCNC2 IN A FAMILY WITH NEURODEVELOPMENTAL DELAY AND ATAXIA
| العنوان: | DELETION OF THE POTASSIUM CHANNEL GENE KCNC2 IN A FAMILY WITH NEURODEVELOPMENTAL DELAY AND ATAXIA |
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| المؤلفون: | Rajakulendran, S, Stewart, H, Koltzenburg, M, Hanna, MG |
| بيانات النشر: | BMJ Publishing Group Ltd |
| سنة النشر: | 2012 |
| المجموعة: | HighWire Press (Stanford University) |
| مصطلحات موضوعية: | Association of British Neurologists Annual Meeting 2012 |
| الوصف: | Mutations in genes encoding ion channel subunits have been described in association with a growing number of central and peripheral nervous system phenotypes. The Kv3 subfamily of potassium channels are encoded by four genes, KCNC1-KCNC4. They play an important role in the high-frequency firing of action potentials in the brain. Here we describe a family in which the three affected members exhibit various degrees of cognitive delay, ataxia and seizures. Cytogenetic analysis identified a deletion on chromosome 12q of the Shaw-related potassium channel gene, KCNC2 which encodes Kv3.2. We present the clinical, genetic and electrophysiological findings on this family in whom a new potassium channel defect has been identified. In addition to implicating important roles for potassium channels in neurodevelopment, these findings expand the clinical spectrum of potassium channelopathies. |
| نوع الوثيقة: | text |
| وصف الملف: | text/html |
| اللغة: | English |
| العلاقة: | http://jnnp.bmj.com/cgi/content/short/83/Suppl_2/A13-cTest; http://dx.doi.org/10.1136/jnnp-2012-304200a.50Test |
| DOI: | 10.1136/jnnp-2012-304200a.50 |
| الإتاحة: | https://doi.org/10.1136/jnnp-2012-304200a.50Test http://jnnp.bmj.com/cgi/content/short/83/Suppl_2/A13-cTest |
| حقوق: | Copyright (C) 2012, BMJ Publishing Group Ltd |
| رقم الانضمام: | edsbas.A8EFFB3D |
| قاعدة البيانات: | BASE |
| DOI: | 10.1136/jnnp-2012-304200a.50 |
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