G protein β3 subunit C825T polymorphism modifies the presentation of temporal lobe epilepsy

Osberg, Silje; Melien, Øyvind; Taubøll, Erik; Gjerstad, Leif

doi:10.1111/j.1600-0404.2008.01034.x

Cited by 1 publication

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References 27 publications

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“…Twenty‐two overlapping primer pairs were used to cover the whole gene including all 5 exons as well as approximately 500 bp upstream and 3000 bp downstream to obtain the most complete picture of the genetic variation present in this gene. DNA was obtained from a test population consisting of 52 individuals from the GenEpA biobank (Osberg et al. 2008).…”

Section: Methodsmentioning

confidence: 99%

Is the brain water channel aquaporin‐4 a pathogenetic factor in idiopathic intracranial hypertension? Results from a combined clinical and genetic study in a Norwegian cohort

Kerty

Heuser

Indahl

et al. 2011

Acta Ophthalmologica

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ABSTRACT.Purpose: Idiopathic intracranial hypertension (IIH) is a condition of increased intracranial pressure of unknown aetiology. Patients with IIH usually suffer from headache and visual disturbances. High intracranial pressure despite normal ventricle size and negative MRI indicate perturbed water flux across cellular membranes, which is provided by the brain water channel aquaporin-4 (AQP4). IIH could be associated with malfunctioning intracerebral water homeostasis and cerebrospinal fluid (CSF) reabsorption based on functional or regulatory alterations of AQP4.Methods: Clinical data, blood and CSF samples were collected from 28 patients with IIH. Clinical characteristics were assessed, and a genetic association study was performed by sequencing the AQP4 gene on chromosome 18. Genetic data were compared with 52 healthy controls and matched by age, sex and ethnicity. Chi-square test and linear discriminant analysis (LDA) were used in the search of a genotype-phenotype association.Results: While the majority of patients responded to medical treatment, four required shunt application. All, except one, had a good visual outcome. The 24 AQP4 gene SNPs showed no association with IIH. Full cross-validation of the LDA modelling resulted in only 55.1% correct classification of the cases and controls, with a corresponding estimated p-value 0.37. Conclusions:Our genetic case-control study did not indicate an association between AQP4 gene variants and IIH. However, the theory of an etiopathogenic link between IIH and AQP4 is tempting, and discussed in this article. Association studies with large sample size are difficult to perform owing is the rarity of the condition.

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Section: Methodsmentioning

confidence: 99%

Is the brain water channel aquaporin‐4 a pathogenetic factor in idiopathic intracranial hypertension? Results from a combined clinical and genetic study in a Norwegian cohort

Kerty

Heuser

Indahl

et al. 2011

Acta Ophthalmologica

View full text Add to dashboard Cite

show abstract

G protein β3 subunit C825T polymorphism modifies the presentation of temporal lobe epilepsy

Abstract: There was no increased frequency of TLE between the carriers of the TT genotype compared with the healthy controls and/or family members without epilepsy. However, the TLE patients with the TT genotype showed tendencies of a more severe disease phenotype.

Cited by 1 publication

References 27 publications

Is the brain water channel aquaporin‐4 a pathogenetic factor in idiopathic intracranial hypertension? Results from a combined clinical and genetic study in a Norwegian cohort

Is the brain water channel aquaporin‐4 a pathogenetic factor in idiopathic intracranial hypertension? Results from a combined clinical and genetic study in a Norwegian cohort

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