Irene Mademont

Nom:
Irene Mademont
Firma: Irene Mademont
Posició:
Tècnics

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant

Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family.

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Genetic analysis, in silico prediction, and family segregation in long QT syndrome

Genetic analysis, in silico prediction, and family segregation in long QT syndrome

The heritable cardiovascular disorder long QT syndrome (LQTS), characterized by prolongation of the QT interval on electrocardiogram, carries a high risk of sudden cardiac death. We sought to add new data to the existing knowledge of genetic mutations contributing to LQTS to both expand our understanding of its genetic basis and assess the value of genetic testing in clinical decision-making.

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