2013
DOI: 10.1111/epi.12083
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Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option

Abstract: Summary Purpose Pyridoxine‐dependent epilepsy seizure (PDE; OMIM 266100) is a disorder associated with severe seizures that can be controlled pharmacologically with pyridoxine. In the majority of patients with PDE, the disorder is caused by the deficient activity of the enzyme α‐aminoadipic semialdehyde dehydrogenase (antiquitin protein), which is encoded by the ALDH7A1 gene. The aim of this work was the clinical, biochemical, and genetic analysis of 12 unrelated patients, mostly from Spain, in an attempt to p… Show more

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Cited by 46 publications
(50 citation statements)
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“…6,8 A third case was reported to have a deletion of exon 17 due to an Alu-Alu recombination event in introns 16 and 17. 9 Notably, 2 of 5 deletions in our study encompass exon 7, suggesting that this exon may be particularly susceptible to deletion.…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…6,8 A third case was reported to have a deletion of exon 17 due to an Alu-Alu recombination event in introns 16 and 17. 9 Notably, 2 of 5 deletions in our study encompass exon 7, suggesting that this exon may be particularly susceptible to deletion.…”
Section: Resultsmentioning
confidence: 99%
“…The ALDH7A1 gene is relatively Alu-rich, with 33% of the sequence made up of Alu repeats, compared to the genome average of 10%. 10 Of 100 families studied in the literature, both mutations in ALDH7A1 had been found in 94 families, and only a single mutation had been identified in 6 families 1,[4][5][6]8,9,11 (table 1). Here, we identify the second mutation in 5 of the 6 unexplained families in the literature.…”
Section: Resultsmentioning
confidence: 99%
“…The common feature is hyperammonemia that is highly toxic to the development of the central nervous system (Lanpher et al, 2003). In the most frequent urea cycle defect, ornithine transcarbamylase (OTC) deficiency (MIM 311250), analysis of hepatic biopsies identified up to three different pseudoexon insertions caused by point mutations creating novel 3¢ or 5¢ splice sites (Ogino et al, 2007;Engel et al, 2008 Desviat et al, 2006;Perez et al, 2010;Brasil et al, 2011;Sanaker et al, 2012;Perez et al, 2013). ESE, exonic splicing enhancer; 3¢ss, 3¢ splice site; 5¢ss, 5¢ splice site.…”
Section: Liver As Target For Antisense Therapymentioning
confidence: 99%
“…Four studies addressing various samples was conducted on vitamin B complexes [346][347][348][349], a review on folate, vitamin B6 and B12 was conducted on methods for analysis in humans [350], four studies were conducted on vitamin B6 [351][352][353][354], two on folate [355,356], five on vitamin B12 [357][358][359][360][361] and one on betaine (from choline) [362]. These studies have been outlined below in Table 3-2.…”
Section: Discussion On Outcomes On Nmr and Ms And B Vitaminsmentioning
confidence: 99%
“…Plasma, urine and CSF was found to be a good sample to ascertain certain B6 metabolite's such as α-aminodipic semialdehyde in urine and pepecolic acid in plasma and cerebral spinal fluid [352,353].…”
Section: Vitamin B6mentioning
confidence: 99%