1. Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant 
Coloma Tiron, Oscar Campuzano, Alexandra Pérez-Serra, Irene Mademont, Monica Coll, Catarina Allegue, Anna Iglesias, Sara Partemi, Pasquale Striano, Antonio Oliva, Ramon Brugada 
Seizure - European Journal of Epilepsy 
Volume 25, Pages (February 2015)
DOI: /j.seizure
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2. Fig. 1
(A) Pedigree of the family. Index case is III-4 (slanted arrow). Slashes round/squares indicate deceased members. White round/squares indicate normal corrected QT interval in the 12-lead ECG after clinical evaluation. Black squares indicate clinically affected by long QT syndrome and/or epilepsy. Plus sign (+) indicates carrier of genetic variation. Minus sign (−) indicates non-carrier of the genetic variation. (B) Electropherogram. DNA forward sequence of the KCNQ1 gene showing the pathogenic genetic variation p.L273F in exon 6. Note the substitution c.817C>T (p.Leu273Phe). (C) Electrocardiogram of index case patient III-4 (25mm/s, 10mm/mV). Heart rate 89bpm, corrected QT (QTc) interval of 487ms. (D) Electrocardiogram of patient II-3 (25mm/s, 10mm/mV, 50Hz). Heart rate 80bpm, corrected QT (QTc) interval of 476ms.
Seizure - European Journal of Epilepsy  , 65-67DOI: ( /j.seizure )
Copyright © 2015 British Epilepsy Association Terms and Conditions