Copy Number Variants and Epilepsy: New Emerging Syndromes
In the last 10 years, advances in the genetic techniques including oligonucleotide array and the following large scale studies have yielded to the identification of recurrent copy number variants (CNVs) associated with epilepsy. Among these a small number has been increasingly reported in association with a distinct epileptic phenotype, delineating emerging epileptic syndromes. To date, none of these CNVs underlying a specific epileptic condition has been included in the ILAE Classification of the Epileptic Syndromes as a distinct form. However once the features and prognosis of these conditions have been completely delineated a proposal for new epileptic syndromes should be considered.
KeywordsEpilepsy Copy number variation 2q24.4 del 5q14.3 del 6q terminal del 14q12 del and dup 15q13.3 del Xp11.22-11.23 dup SCN1A
- Striano P et al (2011a) Clinical significance of rare copy number variations in epilepsy: A case-control survey using microarray-based comparative genomic hybridization. Arch Neurol 69(3):322–30Google Scholar
- Striano P et al (2011b) West syndrome associated with 14q12 duplications harboring FOXG1. Neurology 76(18):1600–1602Google Scholar