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Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family
Epileptic Disorders. Volume 12, Number 2, 117-24, June 2010, Original article
Free Article
Author(s) : Dimitar N Azmanov, Sashka Zhelyazkova, Petya S Dimova, Melania Radionova, Veneta Bojinova, Laura Florez, Shelagh J Smith, Ivailo Tournev, Assen Jablensky, John Mulley, Ingrid Scheffer, Luba Kalaydjieva, Josemir W Sander
Summary : SCN1A mutations account for a large proportion of Dravet syndrome patients, and are reported in other cases of epilepsy, such as some families with genetic epilepsy with febrile seizures plus (GEFS+). While most Dravet syndrome cases are caused by de novo mutations, 5% inherit a mutation from a mildly affected or symptom-free parent. Parental mosaicism has been identified, with documented cases involving truncating mutations or gene rearrangements. We describe a Roma/Gypsy family, where a missense mutation in SCN1A, p.D194N, is transmitted from a mosaic GEFS+ father to a child with Dravet syndrome. Mosaicism may be more common than assumed and should be considered regardless of the nature of the mutation.
Keywords : Dravet syndrome, GEFS+, SCN1A, mutation, mosaicism, febrile seizures plus, borderline SMEI

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family