Article
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Epileptic disorders : international epilepsy journal with videotape - 1 Jun 2010
Azmanov Dimitar N, Zhelyazkova Sashka, Dimova Petya S, Radionova Melania, Bojinova Veneta, Florez Laura, Smith Shelagh J, Tournev Ivailo, Jablensky Assen, Mulley John, Scheffer Ingrid, Kalaydjieva Luba, Sander Josemir W
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.