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PubMed 23538271


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Automatically associated channels: Nav1.5



Title: Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

Authors: Pasquale Parisi, Antonio Oliva, Monica Coll Vidal, Sara Partemi, Oscar Campuzano, Anna Iglesias, Daniela Pisani, Vincenzo L Pascali, Maria Chiara Paolino, Maria Pia Villa, Federico Zara, Carlo Alberto Tassinari, Pasquale Striano, Ramon Brugada

Journal, date & volume: Epilepsy Res., 2013 Aug , 105, 415-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23538271


Abstract
Cardiac arrhythmias are associated with abnormal channel function due to mutations in ion channel genes. Epilepsy is a disorder of neuronal function also involving abnormal channel function. It is increasingly demonstrated that the etiologies of long QT syndrome and epilepsy may partly overlap. However, only a few genetic studies have addressed a possible link between cardiac and neural channelopathies. We describe a family showing the association between Brugada syndrome and epilepsy in which a known mutation in the SCN5A gene (p.W1095X, c.3284G>A) was identified. We suggest that this mutation can be responsible for cardiac and brain involvement, probably at different developmental age in the same individual. This observation confirms the possibility that SCN5A mutations may confer susceptibility for recurrent seizure activity, supporting the emerging concept of a genetically determined cardiocerebral channelopathy.