More than 100 cases have been reported of large deletions on long arm of chromosome 2 (2q), displaying rearrangements of various sizes and distribution, usually associated with a seizure phenotype (1). Conversely, there are only 3 reports on epileptic patients carrying a 2q microduplication (2-4). The smallest commonly rearranged segment in these patients is the 2q24 band, which includes a cluster of alpha subunits of the voltage -gated sodium channels (SCN) genes. We report on the clinical and cytogenetic characterization of two deletions and one duplication involving the 2q24 band and discuss the genotype-epileptic phenotype correlations.
|Translated title of the contribution||Different epileptic phenotypes are associated to deletion and duplication of 2q24 chromosome|
|Number of pages||5|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2013|
ASJC Scopus subject areas
- Clinical Neurology