Lisa M. S. Clayton

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Deletions at 16p13.11 are associated with schizophrenia, mental retardation, and most recently idiopathic generalized epilepsy. To evaluate the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, we used genome-wide screens to identify copy number variation in 3812 patients with a diverse spectrum of epilepsy syndromes(More)
PURPOSE Vigabatrin-associated visual field loss (VAVFL) occurs in around 45% of exposed people. It is generally accepted that, once established, VAVFL is stable and does not progress with continued VGB use. Most studies have, however, only followed people for short periods. We assessed the evolution of VAVFL over a ten-year period of continued VGB use. (More)
Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully revealed common variants associated with disease risk, the role of common variation in partial epilepsies has not yet been explored in a well-powered(More)
PURPOSE To explore the relationship of peripapillary retinal nerve fiber layer (ppRNFL) thinning in individuals exposed to the antiepileptic drug vigabatrin with respect to 2 separate variables: cumulative vigabatrin exposure and severity of vigabatrin-associated visual field loss (VAVFL). DESIGN Cross-sectional observational study. PARTICIPANTS(More)
BACKGROUND Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained. METHODOLOGY/PRINCIPAL FINDINGS We describe three patients with common, sporadic, non-syndromic epilepsies in whom large genomic microdeletions(More)
Many pathogenic structural variants of the human genome are known to cause facial dysmorphism. During the past decade, pathogenic structural variants have also been found to be an important class of genetic risk factor for epilepsy. In other fields, face shape has been assessed objectively using 3D stereophotogrammetry and dense surface models. We(More)
OBJECTIVE Retinal nerve fibre layer (RNFL) thickness is related to the axonal anterior visual pathway and is considered a marker of overall white matter 'integrity'. We hypothesised that RNFL changes would occur in people with epilepsy, independently of vigabatrin exposure, and be related to clinical characteristics of epilepsy. METHODS Three hundred(More)
OBJECTIVE Vigabatrin-associated visual field loss (VAVFL) occurs in 25 to 50% of exposed patients and is routinely monitored using perimetry, which has inherent limitations. Using optical coherence tomography (OCT), retinal nerve fiber layer (RNFL) thinning has been described in a small number of vigabatrin-exposed patients. We explored the relationship(More)
References 1 Jain A, Thampy R, Suharwardy J. Deciphering the code: does clinical coding accurately reflect peroperative cataract surgery complication rates? Eye 2007; 21: 670–671. 2 Colville RJ, Laing JH, Murison MS. Coding plastic surgery operations: an audit of performance using OPCS-4. Br J Plast Surg 2000; 53: 420–422. 3 Dixon J, Sanderson C, Elliott P,(More)
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