Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine

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• 作者：Laura A. Foster ; MD^a ; Maria R. Johnson ; MS^a ; John T. MacDonald ; MD^a ; Peter I. Karachunski ; MD^a ; Thomas R. Henry ; MD^a ; David R. Nascene ; MD^b ; Brian P. Moran ; MD^c ; Gerald V. Raymond ; MD^a ; ^{gvraymon@umn.edu}
• 关键词：channelopathies ; antiarrhythmic agents ; lidocaine ; epilepsy
• 刊名：Pediatric Neurology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：66
• 期：Complete
• 页码：108-111
• 全文大小：953 K
• 卷排序：66

文摘

Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy.MethodWe describe two infants with medically refractory seizures due to a de novo SCN2A mutation.ResultsThe first child responded to intravenous lidocaine with significant reduction in seizure frequency and was successfully transitioned to enteral mexiletine. Mexiletine was subsequently used in a second infant with reduction in seizure frequency.ConclusionClass 1b antiarrhythmic agents, lidocaine and mexiletine, may be useful in infants with medically refractory early infantile epileptic encephalopathy secondary to mutations in SCN2A.