Epilepsy in Prader–Willi syndrome: Clinical characteristics and correlation to genotype

Abstract Prader–Willi syndrome (PWS) is a genomic imprinting disease secondary to the loss of a functional paternal copy of 15q11–q13. Unlike its related imprinting disorder, Angelman syndrome, PWS has not been regarded as a risk factor for epilepsy. A retrospective analysis of 92 patients with PWS...

Full description

Saved in:
Bibliographic Details
Published in:Epilepsy & behavior 2010-11, Vol.19 (3), p.306-310
Main Authors: Vendrame, Martina, Maski, Kiran P, Chatterjee, Madhumouli, Heshmati, Arezou, Krishnamoorthy, Kalpathy, Tan, Wen-Hann, Kothare, Sanjeev V
Format: Article
Language:English
Subjects:
Adolescent
Child
Child, Preschool
CHRNA7
Chromosome Deletion
Electroencephalography
Epilepsy
Epilepsy - classification
Epilepsy - etiology
Epilepsy - genetics
Febrile seizures
Female
Genomic Imprinting
Genotype
Humans
Imprinting
Infant
Male
Mutation
Neurology
Prader-Willi syndrome
Prader-Willi Syndrome - complications
Prader-Willi Syndrome - genetics
Retrospective Studies
Risk Factors
Statistics as Topic
UBE3A
Uniparental disomy
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract Prader–Willi syndrome (PWS) is a genomic imprinting disease secondary to the loss of a functional paternal copy of 15q11–q13. Unlike its related imprinting disorder, Angelman syndrome, PWS has not been regarded as a risk factor for epilepsy. A retrospective analysis of 92 patients with PWS identified 24 (26%) with seizures. Twenty-two of these (92%) were affected by focal epilepsy and only two (8%) had generalized epilepsy. The most common seizure type was staring spells (67%). Correlation to genotype analysis showed deletions were more common in patients with epilepsy than in patients without epilepsy. The epilepsy syndromes were easy to control with a single antiepileptic drug in most cases. Three patients (11%) had had febrile seizures. These findings suggest that PWS may be a risk factor for epilepsy, which can manifest with focal features. Patients with PWS with a deletion genotype showed a trend toward developing seizures compared with patients with other genotypes in our series, even though this difference did not achieve statistical significance.
ISSN:1525-5050
1525-5069
DOI:10.1016/j.yebeh.2010.07.007