Role of KCNMA1 in the Pathogenesis of GEPD Syndrome
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Cleveland State University / OhioLINK
2009
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ndltd-OhioLink-oai-etd.ohiolink.edu-csu12720459342021-08-03T05:35:01Z Role of KCNMA1 in the Pathogenesis of GEPD Syndrome Du, Wei Biology BK channel AGGF1 epilepsy paroxysmal D434G dyskinesia channel The coexistence of generalized epilepsy and paroxysmal dyskinesia within the same individual is an increasingly recognized neurological syndrome, with both sporadic and familial cases reported. The basic pathophysiology underlying GEPD is unknown, and no specific genes have been identified for it. In order to identify genes associated with GEPD, a genome-wide linkage scan was carried out in a Caucasian family affected by GEPD. A disease locus was mapped on chromosome 10q22 and a mutation was identified in KCNMA1 encoding the pore-forming α-subunit of the large conductance calcium-activated potassium channel (BK channel). The mutant BK channel showed a markedly greater macroscopic current and an increase in calcium sensitivity. We propose that enhancement of BK channels in vivo leads to increased excitability by inducing rapid repolarization of action potentials, resulting in GEPD by allowing neurons to fire at a faster rate. These results identify a gene that is mutated in GEPD and support the role of ion channels in the pathogenesis of this syndrome. 2009 English text Cleveland State University / OhioLINK http://rave.ohiolink.edu/etdc/view?acc_num=csu1272045934 http://rave.ohiolink.edu/etdc/view?acc_num=csu1272045934 unrestricted This thesis or dissertation is protected by copyright: all rights reserved. It may not be copied or redistributed beyond the terms of applicable copyright laws. |
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NDLTD |
| language |
English |
| sources |
NDLTD |
| topic |
Biology BK channel AGGF1 epilepsy paroxysmal D434G dyskinesia channel |
| spellingShingle |
Biology BK channel AGGF1 epilepsy paroxysmal D434G dyskinesia channel Du, Wei Role of KCNMA1 in the Pathogenesis of GEPD Syndrome |
| author |
Du, Wei |
| author_facet |
Du, Wei |
| author_sort |
Du, Wei |
| title |
Role of KCNMA1 in the Pathogenesis of GEPD Syndrome |
| title_short |
Role of KCNMA1 in the Pathogenesis of GEPD Syndrome |
| title_full |
Role of KCNMA1 in the Pathogenesis of GEPD Syndrome |
| title_fullStr |
Role of KCNMA1 in the Pathogenesis of GEPD Syndrome |
| title_full_unstemmed |
Role of KCNMA1 in the Pathogenesis of GEPD Syndrome |
| title_sort |
role of kcnma1 in the pathogenesis of gepd syndrome |
| publisher |
Cleveland State University / OhioLINK |
| publishDate |
2009 |
| url |
http://rave.ohiolink.edu/etdc/view?acc_num=csu1272045934 |
| work_keys_str_mv |
AT duwei roleofkcnma1inthepathogenesisofgepdsyndrome |
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1719422081812135936 |