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.

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation / Parisi, Pasquale; Antonio, Oliva; Monica Coll, Vidal; Sara, Partemi; Oscar, Campuzano; Anna, Iglesias; Daniela, Pisani; Vincenzo L., Pascali; Paolino, MARIA CHIARA; Villa, MARIA PIA; Federico, Zara; Carlo Alberto, Tassinari; Pasquale, Striano; Ramon, Brugada. - In: EPILEPSY RESEARCH. - ISSN 0920-1211. - 105:3(2013), pp. 415-418. [10.1016/j.eplepsyres.2013.02.024]

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

PARISI, Pasquale
Primo
Writing – Original Draft Preparation
;
PAOLINO, MARIA CHIARA;VILLA, MARIA PIA;
2013

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.
2013
channelopathy; epilepsy; scn5a; brugada syndrome; syncope; phenotipic shift
01 Pubblicazione su rivista::01a Articolo in rivista
Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation / Parisi, Pasquale; Antonio, Oliva; Monica Coll, Vidal; Sara, Partemi; Oscar, Campuzano; Anna, Iglesias; Daniela, Pisani; Vincenzo L., Pascali; Paolino, MARIA CHIARA; Villa, MARIA PIA; Federico, Zara; Carlo Alberto, Tassinari; Pasquale, Striano; Ramon, Brugada. - In: EPILEPSY RESEARCH. - ISSN 0920-1211. - 105:3(2013), pp. 415-418. [10.1016/j.eplepsyres.2013.02.024]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/517830
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