Epilepsy in Prader–Willi syndrome: Clinical characteristics and correlation to genotype
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- 作者：Martina Vendrame ; Kiran P. Maski ; Madhumouli Chatterjee ; Arezou Heshmati ; Kalpathy Krishnamoorthy ; Wen-Hann Tan ; Sanjeev V. Kothare
- 关键词：Imprinting ; UBE3A ; CHRNA7 ; Uniparental disomy ; Febrile seizures ; Epilepsy ; Prader-Willi syndrome
- 刊名：Epilepsy & Behavior
- 出版年：2010
- 出版时间：November 2010
- 年：2010
- 卷：19
- 期：3
- 页码：306-310
- 全文大小：160 K
文摘
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.