scholarly journals A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact

2008 ◽  
Vol 10 (7) ◽  
pp. 545-550 ◽  
Author(s):  
Laura Arbour ◽  
Saman Rezazadeh ◽  
Jodene Eldstrom ◽  
Gwen Weget-Simms ◽  
Rosemarie Rupps ◽  
...  
Keyword(s):  
British Columbia ◽  
First Nations ◽  
Missense Mutation ◽  
Long Qt Syndrome ◽  
High Rate ◽  
Community Based ◽  
Long Qt ◽  
Qt Syndrome ◽  
The Impact ◽  
Nations Community

Missense Mutation in the Pore Region of HERG Causes Familial Long QT Syndrome

Circulation ◽  
1996 ◽  
Vol 93 (10) ◽  
pp. 1791-1795 ◽  
Author(s):  
D. Woodrow Benson ◽  
Calum A. MacRae ◽  
Mark R. Vesely ◽  
Edward P. Walsh ◽  
J.G. Seidman ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Long Qt Syndrome ◽  
Long Qt ◽  
Pore Region ◽  
Qt Syndrome

Long QT syndrome masquerading as epilepsy

2018 ◽  
Vol 19 (1) ◽  
pp. 56-61 ◽  
Author(s):  
Clare M Galtrey ◽  
Viva Levee ◽  
Jan Arevalo ◽  
Damian Wren
Keyword(s):  
Early Diagnosis ◽  
Long Qt Syndrome ◽  
Refractory Epilepsy ◽  
Near Miss ◽  
Long Qt ◽  
Her Family ◽  
Fatal Arrhythmia ◽  
Qt Syndrome ◽  
The Impact ◽  
Treatable Condition

The diagnosis of epilepsy is incorrect in up to 20% of cases so should be revisited if attacks are not responding to treatment. We present a case of long QT syndrome that remained undiagnosed in the epilepsy clinic for 15 years until a near-fatal arrhythmia revealed the diagnosis and allowed effective treatment of her attacks. We hope this near miss raises awareness of long QT syndrome as a potentially fatal, rare but treatable condition that neurologists must consider in people with a label of refractory epilepsy. We provide practical pointers to increase the chance of early diagnosis and explore the impact of a late diagnosis for the patient and her family.

New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome

2000 ◽  
Vol 15 (6) ◽  
pp. 584-584 ◽  
Author(s):  
Sabine Jahr ◽  
Thorsten Lewalter ◽  
Rolf-Dieter Hesch ◽  
Berndt L�deritz ◽  
Sabine Englisch
Keyword(s):  
Missense Mutation ◽  
Long Qt Syndrome ◽  
Selectivity Filter ◽  
Herg Channel ◽  
Long Qt ◽  
Qt Syndrome

Neonatal brief resolved unexplained events like episode associated with long QT syndrome and novel missense mutation (Thr1502Ile)

2018 ◽  
Vol 7 (3) ◽  
pp. 170
Author(s):  
NirajKumar Dipak ◽  
Swati Garekar ◽  
Shilpa Pandya ◽  
SangitaMahadevrao More
Keyword(s):  
Missense Mutation ◽  
Long Qt Syndrome ◽  
Long Qt ◽  
Qt Syndrome

Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity

Heart Rhythm ◽  
2017 ◽  
Vol 14 (8) ◽  
pp. 1191-1199 ◽  
Author(s):  
Zuhair N. Al-Hassnan ◽  
Majid Al-Fayyadh ◽  
Bander Al-Ghamdi ◽  
Azam Shafquat ◽  
Yaseen Mallawi ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Long Qt Syndrome ◽  
Clinical Profile ◽  
Mutation Spectrum ◽  
Long Qt ◽  
Qt Syndrome ◽  
The Impact

Hypokalemia-Induced Long QT Syndrome with an Underlying Novel Missense Mutation in S4-S5 Linker of KCNQ1

2000 ◽  
Vol 11 (9) ◽  
pp. 1048-1054 ◽  
Author(s):  
TOMOYUKI KUBOTA ◽  
WATARU SHIMIZU ◽  
SHIRO KAMAKURA ◽  
MINORU HORIE
Keyword(s):  
Missense Mutation ◽  
Long Qt Syndrome ◽  
Long Qt ◽  
Qt Syndrome
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