KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome
| Autor: | Pablo Rodríguez-Sierra, José J. Zamorano-León, Rosa Yañez, Antonio J. López-Farré, Gabriel Jaime, Carlos Macaya, Petra J. Mateos-Cáceres, Laura Calatrava-Ledrado, Roman R Alvarez-Granada |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Small-Conductance Calcium-Activated Potassium Channels Long QT syndrome hERG DNA Mutational Analysis medicine.disease_cause Bioinformatics Arginine Asymptomatic Sudden death Cellular and Molecular Neuroscience Epilepsy Electrocardiography Young Adult Genetics medicine Humans cardiovascular diseases Family Health Mutation medicine.diagnostic_test biology business.industry Cardiac arrhythmia Electroencephalography medicine.disease Long QT Syndrome biology.protein Female medicine.symptom business |
| Zdroj: | Journal of neurogenetics. 26(3-4) |
| ISSN: | 1563-5260 |
| Popis: | Long QT syndrome (LQTS) is closely associated with syncope, seizure, and sudden death but LQTS is frequently misdiagnosed as epilepsy. LQTS and epilepsy both belong to the group of ion channelopathies that manifest in the heart and brain. Therefore, genetic analysis of genes associated with potassium and sodium homeostasis and electrical disorders may reveal a link between epilepsy and lethal cardiac arrhythmia. Here, the authors report a young woman who suffered recurrent seizure episodes and syncopes that occurred while walking and also during rest. She showed electroencephalogram abnormalities and a pathological prolonged QTc interval in electrocardiogram. The patient and the patient's asymptomatic family members underwent genetic screening of the three genes most frequently associated with LQTS: KCNQ1, KCNH2, and SCN5A. The patient and the family members did not show DNA alterations in the genes KCNQ1 and SCN5A associated with LQT-1 and LQT-3, respectively. However, the patient showed a de novo mutation 2587T→C in exon 10 of KCNH2 gene associated with LQT-2. The mutation caused a stop codon substitution (R863X) in the HERG channel, leading to a 296-amino acid deletion. The patient's asymptomatic relatives did not show the KCNH2 gene mutation. R863X alteration in HERG channel may be involved in both prolonged QTc interval and epilepsy. This fact raises the possibility that R863X alteration in KCNH2-encoded potassium channel may confer susceptibility for epilepsy and cardiac LQT-2 arrhythmia. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
| Nepřihlášeným uživatelům se plný text nezobrazuje | K zobrazení výsledku je třeba se přihlásit. |