Article
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy.
Neurology - 10 Oct 2006
Madia F, Striano P, Gennaro E, Malacarne M, Paravidino R, Biancheri R, Budetta M, Cilio M R, Gaggero R, Pierluigi M, Minetti C, Zara F
Abstract excerpt
OBJECTIVE: To identify cryptic chromosomal deletions involving SCN1A in patients with severe myoclonic epilepsy of infancy (SMEI). METHODS: Thirty-nine patients with SMEI and without SCN1A point mutations and their parents were typed with 14 intragenic SCN1A polymorphisms to identify hemizygosity. The parental origin and the extent of genomic deletions were determined by fluorescence in situ hybridization...
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