View source for Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation

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Hindocha N, Nashef L, Elmslie F, Birch R, Zuberi S, Al-Chalabi A, Crotti L, Schwartz PJ, and Makoff A (2008) Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation. Epilepsia 49:2 360–5.

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http://onlinelibrary.wiley.com.ezp.welch.jhmi.edu/doi/10.1111/j.1528-1167.2007.01439_2.x/epdf

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'''First Paragraph:''' Discussion of basic mechanisms of the epilepsies constitutes an important part of every epilepsy congressor symposium. Investigators working in the laboratorymade significant contributions to the International Epilepsy Congress last July. This article summarizes some of the new insights into the mechanisms of epileptogenesis andthe novel strategies for therapeutic intervention emerging from the basic science sessions at the 27th International Epilepsy Congress in Singapore. Each of the following paragraphs also includes the names of those investigators (in parentheses) who presented this material at the Congress.

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*Report of 2 sudden deaths in patients with Generalized Epilepsy with Febrile Seizures plus (GEFS+), an autosomal dominant familial epilepsy with expressing as many possible seizure types. In about one-fifth of cases of GEFS+ the mutation is known, and mutations in SCN1A are frequent among these. Mutations in SCN1A can also lead to other neurologic disorders including familial hemiplegic migraine. Commentaries to the report are provided by Cooper, Nabbout, Stramba-Badiale, and Tomson, each of whom focuses on a different aspect of the report.

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