title: MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION.
abstract: Myoclonicastatic epilepsy (MAE) is a rare form of symptomatic generalized epilepsy of uncertain etiology. To search the possible genetic basis of the disorder, here we investigate a 15 year-old patient with MAE, who is the only person presenting epilepsy in the family. High resolution array-CGH analysis was conducted on DNA extracted from peripheral blood of the patient and the parents. The copy number variant(s) (CNVs) identified were further confirmed by Fluorescent In Situ Hybridization (FISH). The array-CGH identified a de novo microduplication of about 778 Kb in the chromosome region 4q21.22-q21.23, involving 11 genes. This is the first report of a de novo CNV in MAE. The genes involved in the duplication are potential candidates that can be investigated in the future to determine their exact role in the etiopathogenesis of the disorder. However, we suggest performing microarray chromosomal analysis in patients with MAE, since rare de novo CNVs could be identified, and this is known to affect the diagnostic process and recurrence risk assessment.
authors.forename: V
authors.initials: V
authors.lastname: Ottaviani
authors.forename: A
authors.initials: A
authors.lastname: Bartocci
authors.forename: M
authors.initials: M
authors.lastname: Pantaleo
authors.forename: S
authors.initials: S
authors.lastname: Giglio
authors.forename: M
authors.initials: M
authors.lastname: Cecconi
authors.forename: A
authors.initials: A
authors.lastname: Verrotti
authors.forename: G
authors.initials: G
authors.lastname: Merla
authors.forename: G
authors.initials: G
authors.lastname: Stangoni
authors.forename: P
authors.initials: P
authors.lastname: Prontera
mesh_terms: D000293:Adolescent; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D006801:Humans; D008297:Male; D014314:Trisomy / Q000235:genetics*