Редактирование: SCN1A (раздел)

==Publications==

{{medline-entry
|title=Effects of normal aging and [[SCN1A]] risk-gene expression on brain metabolites: evidence for an association between [[SCN1A]] and myo-inositol.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/24357141
|abstract=Previously reported MRS findings in the aging brain include lower N-acetylaspartate (NAA) and higher myo-inositol (mI), total creatine (Cr) and choline-containing compound (Cho) concentrations. Alterations in the sodium channel voltage gated type I, alpha subunit [[SCN1A]] variant rs10930201 have been reported to be associated with several neurological disorders with cognitive deficits. MRS studies in [[SCN1A]]-related diseases have reported striking differences in the mI concentrations between patients and controls. In a study on 'healthy aging', we investigated metabolite spectra in a sample of 83 healthy volunteers and determined their age dependence. We also investigated a potential link between [[SCN1A]] and mI. We observed a significantly negative association of NAA (p = 0.004) and significantly positive associations of mI (p ≤ 0.001), Cr (p ≤ 0.001) and Cho (p = 0.034) with age in frontal white matter. The linear association of Cho ends at the age of about 50 years and is followed by an inverted 'U'-shaped curve. Further, mI was higher in C allele carriers of the [[SCN1A]] variant rs10930201. Our results corroborated the age-related changes in metabolite concentrations, and found evidence for a link between [[SCN1A]] and frontal white matter mI in healthy subjects.
|mesh-terms=* Adult
* Aged
* Aged, 80 and over
* Aging
* Animals
* Brain
* Evidence-Based Medicine
* Female
* Gene Expression Regulation
* Genetic Association Studies
* Genetic Markers
* Humans
* Inositol
* Magnetic Resonance Spectroscopy
* Male
* Middle Aged
* NAV1.1 Voltage-Gated Sodium Channel
* Polymorphism, Single Nucleotide
* Risk Factors
* Tissue Distribution
* Young Adult
|keywords=* MRS
* SCN1A
* healthy aging
* myo-inositol
* white matter
|full-text-url=https://sci-hub.do/10.1002/nbm.3057
}}