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

• Published in: Epilepsy research Vol. 105; no. 3; pp. 415 - 418
• Main Authors: Parisi, Pasquale, Oliva, Antonio, Coll Vidal, Monica, Partemi, Sara, Campuzano, Oscar, Iglesias, Anna, Pisani, Daniela, Pascali, Vincenzo L, Paolino, Maria Chiara, Villa, Maria Pia, Zara, Federico, Tassinari, Carlo Alberto, Striano, Pasquale, Brugada, Ramon
• Format: Journal Article
• Language: English
• Published: Kidlington Elsevier B.V 01.08.2013; Elsevier
• Subjects: Adult; Anticonvulsants. Antiepileptics. Antiparkinson agents; Biological and medical sciences; Brain Waves - genetics; Brugada syndrome; Brugada Syndrome - complications; Brugada Syndrome - genetics; Cardiac dysrhythmias; Cardiology. Vascular system; Channelopathy; Child, Preschool; Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes; DNA Mutational Analysis; Electroencephalography; Epilepsy; Epilepsy - complications; Epilepsy - genetics; Family Health; Female; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Heart; Humans; Male; Medical sciences; Mutation - genetics; NAV1.5 Voltage-Gated Sodium Channel - genetics; Nervous system (semeiology, syndromes); Neurology; Neuropharmacology; Pharmacology. Drug treatments; SCN5A; Syncope; SCN5A; Brugada syndrome; Syncope; Channelopathy; Epilepsy; Rat; Arrhythmia; Central nervous system; Cardiovascular disease; Epidemiology; Involuntary movement; Encephalon; Etiology; Heart block; Heart disease; Classification; Spike wave; Neurological disorder; Child; Human; Nervous system diseases; Myoclonus; Family study; Consciousness impairment; Rodentia; Idiopathic; Prolonged QT interval; Recurrent; Conduction disorder; Cerebral disorder; Vertebrata; Mammalia; Convulsion; Animal; Central nervous system disease; Mutation
• ISSN: 0920-1211; 1872-6844
• DOI: 10.1016/j.eplepsyres.2013.02.024

Highlights • Cardiac arrhythmias and Epilepsy can be associated to mutations in ion channel genes. • Few genetic study have addressed the link between cardiac and neural channellopathy. • Here, we describe a Family showing both, Brugada Syndrome and Epilepsy. • A SCN5A mutation can be responsible for cardiac and brain involvment at different age.