KCNH2 gene mutation: A potential link between epilepsy and long QT-2 syndrome

Journal of Neurogenetics

Volumn 26, Issue 3-4, 2012, Pages 382-386

  Zamorano León, José J ^a   Yañez, Rosa ^b   Jaime, Gabriel ^b   Rodriguez Sierra, Pablo ^a   Calatrava Ledrado, Laura ^a   Alvarez Granada, Roman R ^b   Mateos Cáceres, Petra Jiménez ^a   MacAya, Carlos ^a   López Farré, Antonio J ^a  

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^b Hospital Cristal Pinor   (Spain)

Author keywords

Epilepsy; KCNH2 gene; Long QT syndrome; Mutation

Indexed keywords

AMINO ACID; ANTICONVULSIVE AGENT; ARGININE; ATENOLOL; CYSTINE; DNA; KCNH2 CHANNEL; LAMOTRIGINE; POTASSIUM CHANNEL; POTASSIUM CHANNEL HERG; POTASSIUM CHANNEL KCNQ1; SODIUM CHANNEL NAV1.5; THREONINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ANTICONVULSANT THERAPY; ARTICLE; CASE REPORT; CODON; DISEASE ASSOCIATION; EEG ABNORMALITY; ELECTROCARDIOGRAM; ELECTROENCEPHALOGRAM; EPILEPSY; EXON; FAINTNESS; FAMILY; FEMALE; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HISTOPATHOLOGY; HUMAN; LONG QT SYNDROME; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QT INTERVAL; RECURRENT DISEASE; REST; RISK FACTOR; SEIZURE; WALKING;

ARGININE; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; EPILEPSY; FAMILY HEALTH; FEMALE; HUMANS; LONG QT SYNDROME; MUTATION; SMALL-CONDUCTANCE CALCIUM-ACTIVATED POTASSIUM CHANNELS; YOUNG ADULT;

SYNCOPE;

EID: 84870277857     PISSN: 01677063     EISSN: 15635260     Source Type: Journal    
DOI: 10.3109/01677063.2012.674993     Document Type: Article

References (24)

1. Aurlien, D., Leren, T. P., Taubøll, E., & Gjerstad, L. (2009). New SCN5A mutation in a SUDEP victim with idiopathic epilepsy. Seizure, 18, 158-160.
2. Commission on Epidemiology and Prognosis, International League Against Epilepsy. (1993). Guidelines for epidemiologic studies on epilepsy. Epilepsia, 34, 592-596.
3. Crotti, L., Celano, G., Dagradi, F., & Schwartz, P. J. (2008). Congenital long QT syndrome. Orphanet J Rare Dis, 3, 18.
4. Emmi, A., Wenzel, H. J., Schwartzkroin, P. A., Taglialatela, M., Castaldo, P., Bianchi, L., Nerbonne, J., Robertson, G. A., & Janigro, D. (2000). Do glia have heart? Expression and functional role for ether-a-go-go currents in hippocampal astrocytes. J Neurosci, 20, 3915-3925. (Pubitemid 30266252)
5. Glasscock, E., Yoo, J. W., Chen, T. T., Klassen T. L., & Noebels J. L. (2010). Kv1.1 potassium channel defi ciency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy (SUDEP). J Neurosci, 30, 5167-5175.
6. Goldman, A, M., Glasscock, E., Yoo, J., Chen, T, T., Klassen T. L., & Noebels, J. L. (2009). Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death. Sci Transl Med, 14, 2ra6.
7. Hedley, P. L., Jørgensen, P., Schlamowitz, S., Wangari, R., Moolman-Smook, J., Brink, P. A., Kanters, J. K., Corfifeld, V. A., & Christiansen, M. (2009). The genetic basis of long QT and short QT syndromes: a mutation update [review]. Hum Mutat, 30, 1486-1511.
8. Horn, C. A., Beekman, R. H., Dick, M., 2nd., & Lacina, S. J., (1986). The congenital long QT syndrome. An unusual cause of childhood seizures. Am J Dis Child, 140, 659-661. (Pubitemid 16099764)
9. Johnson, J. N., Hofman, N., Haglund, C. M., Cascino, G. D., Wilde, A. A., & Ackerman, M. J. (2009). Identifi cation of a possible pathogenic link between congenital long QT syndrome and epilepsy. Neurology, 72, 224-231.
10. 2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice. J Clin Invest, 118, 2230-2245. (Pubitemid 351872341)
11. MacCormick, J. M., McAlister, H., Crawford, J., French, J. K., Crozier, I., Shelling, A. N., Eddy, C. A., Rees, M. I., & Skinner, J. R. (2009). Misdiagnosis of long QT syndrome as epilepsy at fi rst presentation. Ann Emerg Med, 54, 26-32.
12. Moss, A. J., Schwartz, P. J., Crampton, R. S., Tzivoni, D., Locati, E. H., MacCluer, J., Hall, W. J., Weitkamp, L., Vincent, G. M., & Garson, A., Jr. (1991). The long QT syndrome. Prospective longitudinal study of 328 families. Circulation, 84, 1136-1144.
13. Priori, S. G, Napolitano, C, & Schwartz, P. J. (1999). Low penetrance in the long-QT syndrome: clinical impact. Circulation, 99, 529-533. (Pubitemid 29061868)
14. Teng, S., Ma, L., Dong, Y., Lin, C, Ye, J., B ä hring, R., Vardanyan, V., Yang, Y, Lin, Z., Pongs, O., & Hui, R. (2004). Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome. J Mol Med, 82, 189-196. (Pubitemid 38392169)
15. + channel polypeptide is encoded by the seizure locus. J Neurosci, 17, 875-881. (Pubitemid 27043946)
16. Trudeau, M. C, Warmke, J. W., Ganetzky, B., & Robertson, G. A. (1995). HERG, a human inward rectifi er in the voltage-gated potassium channel family. Science, 269, 92-95.
17. Tu, E., Bagnall, R. D., Dufl ou, J., & Semsarian, C. (2011a). Postmortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases. Brain Pathol, 21, 201-208.
18. Tu, E., Waterhouse, L., Dufl ou, J., Bagnall, R. D., & Semsarian, C. (2011b). Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases. Brain Pathol, 21, 692-698.
19. Van Langen, I. M., Birnie, E., Alders, M., Jongbloed, R. J., Le Marec, H., & Wilde, A. A. (2003). The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet, 40, 141-145. (Pubitemid 36232821)
20. Viswanathan, P. C., Benson, D. W., & Balser, J. R., (2003). A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest, 111, 341-346. (Pubitemid 36182210)
21. Warmke, J. W., & Ganetzky, B., (1994). A family of potassium channel genes related to eag in Drosophila and mammals. Proc Natl Acad Sci U S A, 91, 3438-3442. (Pubitemid 24130252)
22. Yamamoto, A., Yamamoto, G., Ohfu, M., Hamamoto, K., Yasumoto, S., & Hirose, S., (2009). Criteria for differential diagnosis of epilepsy and long QT syndrome presenting with seizures and EEG abnormalities. No To Hattatsu, 41, 442-446.
23. Yang, P., Kanki, H., Drolet, B., Yang, T., Wei, J., Viswanathan, P. C., Hohnloser, S. H., Shimizu, W., Schwartz, P. J., Stanton, M., Murray, K. T., Norris, K., George, A. L., Jr., & Roden, D. M. (2002). Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation, 105, 1943-1948. (Pubitemid 34437622)
24. Zamorano-Le ó n, J. J., Alonso-Orgaz, S., Moreno, J., Cinza, R., Garc í a-Torrent, M. J., P é rez-Castellano, N., P é rez-Villacastín, J., Macaya, C., & López-Farré, A. J. (2010). Novel mutation (H402R) in the S1 domain of KCNH2-encoded gene associated with long QT syndrome in a Spanish family. Int J Cardiol, 142, 206-208.