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Sudden unexpected death in epilepsy is an unpredicted condition in patients with a diagnosis of epilepsy, and autopsy does not conclusively identify cause of death. Although the pathophysiological mechanisms that underlie this entity remain unknown, the fact that epilepsy can affect cardiac function is not surprising. The genetic factors involving ion channels co-expressed in the heart and brain and other candidate genes have been previously described. In the present study, 20 epilepsy patients with personal or family history of heart rhythm disturbance/cardiac arrhythmias/sudden death were sequenced using a custom resequencing panel. Twenty-six relatives were genetically analysed to ascertain the family segregation in ten individuals. Four subjects revealed variants with positive genotype-phenotype segregation: four missense variants in the CDKL5, CNTNAP2, GRIN2A and ADGRV1 genes and one copy number variant in KCNQ1. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts, and the evaluation of the potential pathogenic role in the cardio-cerebral mechanisms requires in vivo/in vitro studies. In addition to family segregation, evaluation of the potential pathogenic roles of these variants in cardio-cerebral mechanisms by in vivo/in vitro studies should also be performed. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts.

This paper discusses the case of a young boy who died suddenly during a football match. The victim's personal and family medical histories were negative for cardiac events. He had undergone a cardiological investigation some months before his death, enabling him to participate in competitive sports. Only post-mortem molecular analysis allowed for a clearer determination of the most plausible cause of death, which was identified as inherited arrhythmogenic heart disease, known as catecholaminergic polymorphic ventricular tachycardia. It was possible to detect a novel, previously undescribed, variant in the RYR2 gene. This case report highlights the importance of a meaningful forensic multidisciplinary investigation in such cases, and also discusses possible medical malpractice claims.

Tomando como base obras literarias de reconocido prestigio, así como la formación académica y vivencias personales de sus autores, es posible establecer una relación real y plenamente útil entre Derecho y Literatura, de manera que se constate que el primero es capaz de influenciar una obra literaria más allá de la mera ficción. Estas obras, a las que llamaríamos defensas literarias serían capaces de alcanzar plenos efectos en el mundo real, afectando directamente a la vida de sus creadores, cumpliendo de ese modo la intención con la que fueron escritas. Se trataría de una vertiente más del conocido movimiento Derecho y Literatura, ya que se produce una doble interacción entre ambas disciplinas. Por un lado, el Derecho, a través de la presencia de elementos y estructuras jurídicas, es capaz de condicionar el sentido de una obra literaria mientras se beneficia de una serie de instrumentos que le permiten alejarse de la rigidez del lenguaje jurídico; a su vez, al tratarse de obras de naturaleza literaria, puede extender la Literatura su ámbito de actuación a otras esferas distintas de la ficción, tradicionalmente influenciadas por otras disciplinas. Se trataría pues, de un subgénero en el que la inserción total del Derecho en la Literatura origina una obra literaria en fondo y forma, que a su vez es capaz de desplegar efectos asimilables a los de un documento de naturaleza jurídica y procesal como es el escrito de defensa.

Epilepsy is a common neurological disorder associated with increased morbidity and mortality. Sudden unexpected death in epilepsy, also known as SUDEP, is the main cause of death in patients with epilepsy. SUDEP has an incidence of 1.2 per 1000 person-years in adults and 0.2 per 1000 person-years in children. SUDEP accounts for 8–17% of deaths in patients with epilepsy. It is commonly associated with a history of generalized tonic-clonic seizures, and its risk may be increased by other factors such as postictal electroencephalographic suppression, prone sleeping position, altered heart rate variability, conduction abnormalities, gender, or antiepileptic medications. Recently, electrocardiograms, electroencephalograms, and imaging markers have helped clinicians stratify SUDEP risk and identify patients in need of close monitoring. However, the pathophysiology of SUDEP is likely multifactorial and still unknown. Improving the knowledge of SUDEP incidence, risk factors, and biomarkers can help design and implement effective prevention strategies.