TY - JOUR
T1 - Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation
AU - Gigli, Lorenzo
AU - Bertero, Giovanni
AU - Vidal, Monica Coll
AU - Iglesias, Anna
AU - Campuzano, Oscar
AU - Striano, Pasquale
AU - Oliva, Antonio
AU - Brugada, Ramon
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - Neurology
KW - Neurology (clinical)
KW - Neurology
KW - Neurology (clinical)
UR - https://publicatt.unicatt.it/handle/10807/98371
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85013187607&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85013187607&origin=inward
U2 - 10.1007/s00415-017-8414-2
DO - 10.1007/s00415-017-8414-2
M3 - Article
SN - 0340-5354
VL - 264
SP - 792
EP - 795
JO - Journal of Neurology
JF - Journal of Neurology
IS - 4
ER -