Brugada Syndrome: Difference between revisions

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|#613119  
|#613119  
|''KCNE3''
|''KCNE3''
|KCNE3 (MiRP2)
|KCNE3<br />(MiRP2)
|''&beta;'' subunit of voltage-dependent K<sup>+</sup> channels
|''&beta;'' subunit of voltage-dependent K<sup>+</sup> channels
|Gain of function of I<sub>to</sub>
|Gain of function of I<sub>to</sub>
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|''CACNA2D1''  
|''CACNA2D1''  
|Ca<sub>v</sub>''&alpha;''<sub>2</sub>''&delta;''-1
|Ca<sub>v</sub>''&alpha;''<sub>2</sub>''&delta;''-1
|</sub>''&alpha;''<sub>2</sub>''&delta;'' subunit of I<sub>Ca,L</sub> channel
|''&alpha;''<sub>2</sub>''&delta;'' subunit of I<sub>Ca,L</sub> channel
|Loss of function of I<sub>Ca,L</sub>
|Loss of function of I<sub>Ca,L</sub>
|-
|-
Line 110: Line 110:
|NC
|NC
|
|
|''KCNE1L<br /> (KCNE5)''
|''KCNE1L<br />(KCNE5)''
|KCNE1L
|KCNE1L
|''&beta;'' subunit of voltage-dependent K<sub>+</sub> channels
|''&beta;'' subunit of voltage-dependent K<sub>+</sub> channels
Line 127: Line 127:
|Na<sub>v</sub>''&beta;''1B
|Na<sub>v</sub>''&beta;''1B
|''&beta;'' subunit of I<sub>Na</sub>
|''&beta;'' subunit of I<sub>Na</sub>
|Loss of function of I<sub>Na</sub> and Gain of function of I<sub>to</sub>
|Loss of function of I<sub>Na</sub> and  
 
Gain of function of I<sub>to</sub>
|-
|-
|colspan="6" bgcolor="#99CCFF"|OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; BrS1–BrS7: Brugada syndrome types 1–7; NC: no consensus; I<sub>Ca,L</sub>: L-type calcium current; I<sub>f</sub>: hyperpolarization-activated current; I<sub>K,ATP</sub>: ATP-sensitive potassium current; I<sub>Na</sub>: fast sodium current; I<sub>to</sub>: transient outward potassium current.
|colspan="6" bgcolor="#FFFFCC"|'''OMIM:''' ''Online Mendelian Inheritance in Man'' compendium of human genes and genetic phenotypes; '''BrS1–BrS7:''' Brugada syndrome types 1–7; '''NC:''' no consensus; '''I<sub>Ca,L</sub>:''' L-type calcium current; '''I<sub>f</sub>:''' hyperpolarization-activated current; '''I<sub>K,ATP</sub>:''' ATP-sensitive potassium current; '''I<sub>Na</sub>:''' fast sodium current; '''I<sub>to</sub>:''' transient outward potassium current.
|}
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