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Article

Four generations of epilepsy caused by an inherited microdeletion of the <i>SCN1A</i> gene

20 May 2010

Abstract excerpt

OBJECTIVES: The aim of this study was to determine the genetic defect in a 4-generational family with an epileptic disorder characterized by febrile and afebrile polymorphic seizures and mild to severe mental retardation by means of analyzing the neuronal voltage-gated sodium channel alpha-subunit gene SCN1A for mutations. METHODS: A Bulgarian family was ascertained and clinically assessed, followed by mutation...

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PMID: 20484682
DOI: 10.1212/wnl.0b013e3181e62088

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