Sudden unexpected death is a catastrophic complicationof human epilepsy with an incidence of 6.3–9.3 per 1000person years in epilepsy patients entering surgery programs[1]. However, mechanisms and methods to prevent it arestill largely unknow n. A leading hypothesis suggests adysfunction of excitability that could underlie both epi-lepsy and cardiac arrhythmias, leading to death [1, 2]. Inrecent years, there has been increased interest in a possibleassociation between epilepsy channelopathies and cardiacarrhythmias. We report a patient with juvenile myoclonic epilepsy(JME or Janz’s syndrome) and a Brugada diagnostic ECGpattern revealed after a convulsive seizure. Genetic anal-ysis revealed a novel mutation in the PKP2 gene, encodingplakophilin 2, a myocardial desmosomal protein, which hasbeen associated with cardiac arrhythmias [5]. This obser-vation provides further evidence for a possible linkbetween idiopathic epilepsy and cardiac arrhythmias andthe related possible implication for Sudden UnexpectedDeath in EPilepsy (SUDEP) pathophysiology.

Gigli, L., Bertero, G., Vidal, M. C., Iglesias, A., Campuzano, O., Striano, P., Oliva, A., Brugada, R., Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation, <<JOURNAL OF NEUROLOGY>>, 2017; 264 (4): 792-795. [doi:10.1007/s00415-017-8414-2] [http://hdl.handle.net/10807/98371]

Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation

Pasquale; Oliva
Penultimo
;
2017

Abstract

Sudden unexpected death is a catastrophic complicationof human epilepsy with an incidence of 6.3–9.3 per 1000person years in epilepsy patients entering surgery programs[1]. However, mechanisms and methods to prevent it arestill largely unknow n. A leading hypothesis suggests adysfunction of excitability that could underlie both epi-lepsy and cardiac arrhythmias, leading to death [1, 2]. Inrecent years, there has been increased interest in a possibleassociation between epilepsy channelopathies and cardiacarrhythmias. We report a patient with juvenile myoclonic epilepsy(JME or Janz’s syndrome) and a Brugada diagnostic ECGpattern revealed after a convulsive seizure. Genetic anal-ysis revealed a novel mutation in the PKP2 gene, encodingplakophilin 2, a myocardial desmosomal protein, which hasbeen associated with cardiac arrhythmias [5]. This obser-vation provides further evidence for a possible linkbetween idiopathic epilepsy and cardiac arrhythmias andthe related possible implication for Sudden UnexpectedDeath in EPilepsy (SUDEP) pathophysiology.
Inglese
Gigli, L., Bertero, G., Vidal, M. C., Iglesias, A., Campuzano, O., Striano, P., Oliva, A., Brugada, R., Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation, <<JOURNAL OF NEUROLOGY>>, 2017; 264 (4): 792-795. [doi:10.1007/s00415-017-8414-2] [http://hdl.handle.net/10807/98371]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/98371
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