In:
Epilepsia, Wiley, Vol. 55, No. 7 ( 2014-07), p. 1025-1029
Abstract:
Patients with tuberous sclerosis complex ( TSC ) commonly present with significant neurologic deficits, including seizures, autism, and intellectual disability. Previous evidence suggests that the TSC 2 mutation genotype may be associated with a more severe disease phenotype. This study evaluates the association of the TSC 1 and TSC 2 genotype with patient and disease characteristics in a retrospective review of a large TSC N atural H istory D atabase consisting of 919 patients with TSC . Methods Univariate logistic regression was conducted to evaluate the association of the TSC 1 and TSC 2 gene mutations with patient and disease characteristics. Results As compared to patients with the TSC 1 mutation, patients with the TSC 2 mutation were younger (p = 0.02), more likely to have partial epilepsy (odds ratio ( OR ) 1.74, p = 0.0015), complex partial seizures ( OR 2.03, p = 0.02), infantile spasms ( IS ) ( OR 1.67, p = 0.01), subependymal giant‐cell astrocytomas ( SEGAs ) ( OR 1.64, p = 0.01), and intellectual disability ( OR 2.90, p = 0.0002). Significance The clinical presentation of TSC is highly variable and not well understood. Our findings confirm and supplement existing literature that TSC 2 mutation is likely to be associated with a more severe, earlier presenting TSC phenotype, including infantile spasms. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here .
Type of Medium:
Online Resource
ISSN:
0013-9580
,
1528-1167
DOI:
10.1111/epi.2014.55.issue-7
Language:
English
Publisher:
Wiley
Publication Date:
2014
detail.hit.zdb_id:
2002194-X
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