title: Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.
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.
authors.affiliation: Child Neurology, NESMOS Department, Faculty of Medicine and Psychology, "Sapienza University", Rome, Italy. pasquale.parisi@uniroma1.it
authors.forename: Pasquale
authors.initials: P
authors.lastname: Parisi
authors.forename: Antonio
authors.initials: A
authors.lastname: Oliva
authors.forename: Monica
authors.initials: M
authors.lastname: Coll Vidal
authors.forename: Sara
authors.initials: S
authors.lastname: Partemi
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
authors.forename: Anna
authors.initials: A
authors.lastname: Iglesias
authors.forename: Daniela
authors.initials: D
authors.lastname: Pisani
authors.forename: Vincenzo L
authors.initials: VL
authors.lastname: Pascali
authors.forename: Maria Chiara
authors.initials: MC
authors.lastname: Paolino
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: Villa
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Carlo Alberto
authors.initials: CA
authors.lastname: Tassinari
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
mesh_terms: D000328:Adult; D058256:Brain Waves / Q000235:genetics; D053840:Brugada Syndrome / Q000150:complications* / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human
keywords: Brugada syndrome; Channelopathy; Epilepsy; SCN5A; Syncope