LQT9: Difference between revisions
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This newly discovered variant is caused by mutations in the membrane structural protein,[[caveolin]]<nowiki>-3</nowiki>. Caveolins form specific membrane domains called [[caveolae]] in which among others the Na<sub>V</sub>1.5 [[voltage-gated sodium channel]] sits. Similar to LQT3, these particular mutations increase so-called 'late' sodium current which impairs cellular [[repolarization]]. | |||
This newly discovered variant is caused by mutations in the membrane structural protein,[[caveolin]]<nowiki>-3</nowiki>. Caveolins form specific membrane domains called[[caveolae]] in which among others the Na<sub>V</sub>1.5 [[voltage-gated sodium channel]]sits. Similar to LQT3, these particular mutations increase so-called 'late' sodium current which impairs cellular [[repolarization]]. | |||
==References== | ==References== | ||
Revision as of 17:28, 7 October 2012
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Long QT Syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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LQT9 On the Web |
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American Roentgen Ray Society Images of LQT9 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]
Overview
LQT9
| Type | OMIM | Mutation |
| LQT9 | Caveolin 3 |
This newly discovered variant is caused by mutations in the membrane structural protein,caveolin-3. Caveolins form specific membrane domains called caveolae in which among others the NaV1.5 voltage-gated sodium channel sits. Similar to LQT3, these particular mutations increase so-called 'late' sodium current which impairs cellular repolarization.