Epilepsy in Prader-Willi syndrome: clinical characteristics and correlation to genotype.
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.
Vendrame
Martina
M
Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Children's Hospital Boston, Boston, MA 02115, USA.
Maski
Kiran P
KP
Chatterjee
Madhumouli
M
Heshmati
Arezou
A
Krishnamoorthy
Kalpathy
K
Tan
Wen-Hann
WH
Kothare
Sanjeev V
SV
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D004569:Electroencephalography; D004827:Epilepsy / Q000145:classification / Q000209:etiology* / Q000235:genetics*; D005260:Female; D018392:Genomic Imprinting; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011218:Prader-Willi Syndrome / Q000150:complications* / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors; D013223:Statistics as Topic; D055815:Young Adult