Using a large international sample to investigate epilepsy in Rett syndrome
Aim The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype. Method Information on 685 females with RTT recruited to the international Rett syndrome database (InterRett) with a pathogenic MECP2 mutation was obtained fr...
| Main Authors: | , , , , |
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| Format: | Journal Article |
| Published: |
Wiley-Blackwell Publishing Ltd.
2013
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| Online Access: | http://hdl.handle.net/20.500.11937/7376 |
| _version_ | 1848745350984105984 |
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| author | Bao, X. Downs, Jennepher Wong, K. Williams, S. Leonard, H. |
| author_facet | Bao, X. Downs, Jennepher Wong, K. Williams, S. Leonard, H. |
| author_sort | Bao, X. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Aim The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype. Method Information on 685 females with RTT recruited to the international Rett syndrome database (InterRett) with a pathogenic MECP2 mutation was obtained from family and clinician questionnaires. Individuals with RTT were aged 1 year 4 months to 54 years 2 months (mean 11y 1mo; SD 9y 4mo). Results Among them, 61% had epilepsy, with half diagnosed by the age of 5 years. Those with a large deletion had the earliest median age at epilepsy onset and those with p.R133C the latest age at onset. The highest rate of active epilepsy (54%) was in those aged 12 to 17 years. Compared with those with a p.R133C mutation, active seizures were more likely to be reported in those with a large deletion (odds ratio 3.71; 95% confidence interval 1.13–12.17) or p.T158M (odds ratio 2.92; 95% confidence interval 1.04–8.20). Commonly used medicines included valproate (47%), carbamazepine (39%), lamotrigine (30%), levetiracetam (24%), and topiramate (19%). Interpretation Genotype influences the age at onset and severity of epilepsy in RTT. Large sample sizes as available through InterRett assist in understanding the complexity of epilepsy in RTT in relation to genotype. |
| first_indexed | 2025-11-14T06:15:58Z |
| format | Journal Article |
| id | curtin-20.500.11937-7376 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T06:15:58Z |
| publishDate | 2013 |
| publisher | Wiley-Blackwell Publishing Ltd. |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-73762018-05-28T05:41:40Z Using a large international sample to investigate epilepsy in Rett syndrome Bao, X. Downs, Jennepher Wong, K. Williams, S. Leonard, H. Aim The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype. Method Information on 685 females with RTT recruited to the international Rett syndrome database (InterRett) with a pathogenic MECP2 mutation was obtained from family and clinician questionnaires. Individuals with RTT were aged 1 year 4 months to 54 years 2 months (mean 11y 1mo; SD 9y 4mo). Results Among them, 61% had epilepsy, with half diagnosed by the age of 5 years. Those with a large deletion had the earliest median age at epilepsy onset and those with p.R133C the latest age at onset. The highest rate of active epilepsy (54%) was in those aged 12 to 17 years. Compared with those with a p.R133C mutation, active seizures were more likely to be reported in those with a large deletion (odds ratio 3.71; 95% confidence interval 1.13–12.17) or p.T158M (odds ratio 2.92; 95% confidence interval 1.04–8.20). Commonly used medicines included valproate (47%), carbamazepine (39%), lamotrigine (30%), levetiracetam (24%), and topiramate (19%). Interpretation Genotype influences the age at onset and severity of epilepsy in RTT. Large sample sizes as available through InterRett assist in understanding the complexity of epilepsy in RTT in relation to genotype. 2013 Journal Article http://hdl.handle.net/20.500.11937/7376 10.1111/dmcn.12093 Wiley-Blackwell Publishing Ltd. unknown |
| spellingShingle | Bao, X. Downs, Jennepher Wong, K. Williams, S. Leonard, H. Using a large international sample to investigate epilepsy in Rett syndrome |
| title | Using a large international sample to investigate epilepsy in Rett syndrome |
| title_full | Using a large international sample to investigate epilepsy in Rett syndrome |
| title_fullStr | Using a large international sample to investigate epilepsy in Rett syndrome |
| title_full_unstemmed | Using a large international sample to investigate epilepsy in Rett syndrome |
| title_short | Using a large international sample to investigate epilepsy in Rett syndrome |
| title_sort | using a large international sample to investigate epilepsy in rett syndrome |
| url | http://hdl.handle.net/20.500.11937/7376 |