Browsing by Author "Mulley, John C."

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    Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?
    (WILEY-BLACKWELL, 2010) Heron, Sarah E.; Hernandez, Marta; Edwards, Caitlin; Edkins, Edward; Jansen, Floor E.; Scheffer, Ingrid E.; Berkovic, Samuel F.; Mulley, John C.
    We identified a patient with electrophysiologically verified neonatal long QT syndrome (LQTS) and neonatal seizures in the presence of a controlled cardiac rhythm. To find a cause for this unusual combination of phenotypes, we tested the patient for mutations in seven ion channel genes associated with either LQTS or benign familial neonatal seizures (BFNS). Comparative genome hybridization (CGH) was done to exclude the possibility of a contiguous gene syndrome. No mutations were found in the genes (KCNQ2, KCNQ3) associated with BFNS, and CGH was negative. A previously described mutation and a known rare variant were found in the LQTS-associated genes SCN5A and KCNE2. Both are expressed in the brain, and although mutations have not been associated with epilepsy, we propose a pathophysiologic mechanism by which the combination of molecular changes may cause seizures.