Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?

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dc.contributor.authorHeron, Sarah E.
dc.contributor.authorHernandez, Marta
dc.contributor.authorEdwards, Caitlin
dc.contributor.authorEdkins, Edward
dc.contributor.authorJansen, Floor E.
dc.contributor.authorScheffer, Ingrid E.
dc.contributor.authorBerkovic, Samuel F.
dc.contributor.authorMulley, John C.
dc.date.accessioned2024-01-10T13:15:26Z
dc.date.available2024-01-10T13:15:26Z
dc.date.issued2010
dc.description.abstractWe 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.
dc.description.funderNational Health and Medical Research Council of Australia
dc.fechaingreso.objetodigital2024-05-14
dc.format.extent4 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1111/j.1528-1167.2009.02317.x
dc.identifier.issn0013-9580
dc.identifier.pubmedidMEDLINE:19863579
dc.identifier.urihttps://doi.org/10.1111/j.1528-1167.2009.02317.x
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/78500
dc.identifier.wosidWOS:000274144900015
dc.information.autorucMedicina;Hernández M;S/I;55673
dc.issue.numero2
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final296
dc.pagina.inicio293
dc.publisherWILEY-BLACKWELL
dc.revistaEPILEPSIA
dc.rightsacceso restringido
dc.subjectEpilepsy
dc.subjectNeonatal seizures
dc.subjectLong QT syndrome
dc.subjectVoltage-gated sodium channel
dc.subjectVoltage-gated potassium channel
dc.subjectIDIOPATHIC EPILEPSY
dc.subjectMUTATION
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleNeonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?
dc.typeartículo
dc.volumen51
sipa.codpersvinculados55673
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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