title: Severe epilepsy in an adult with partial trisomy 18q.
abstract: Epilepsy is one of the most common presentations associated with chromosome aberrations. Detailed descriptions of some aberration-specific epileptic and electroencephalographic (EEG) phenotypes have been reported (i.e., Angelman syndrome, ring 20 etc.). However there is limited and mixed information about the characteristics of epilepsy related to trisomy 18. Thus a common seizure phenotype has not been characterized yet. Here we describe in detail a patient with refractory epilepsy and partial 18q trisomy.
authors.affiliation: Epilepsy Centre, Neurology Department, Federico II University, Naples, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: del Gaudio
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Antonietta
authors.initials: A
authors.lastname: Coppola
mesh_terms: D000328:Adult; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008297:Male; D014314:Trisomy / Q000235:genetics / Q000473:pathology*
keywords: edwards syndrome; epilepsy; trisomy 18