Common variants of ATP1A3 but not ATP1A2 are associated with Chinese genetic generalized epilepsies

Qu, Jian; Yang, Zhiquan; Zhang, Ying; Mao, Chen-Xue; Wang, Zhibin; Mao, Xiao‐Yuan; Zhou, Boting; Yin, Ji‐Ye; He, Hui; Long, Hongyu; Gong, Jia-E; Xiao, Bo; Zhou, Hong‐Hao; Liu, Zhao‐Qian

doi:10.1016/j.jns.2015.04.045

Cited by 13 publications

(17 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The most of studies were classified as high quality (90%)[35–53,55,56,58–65,67–74,76–78,80,82,83]. Ninety-eight percent of them clearly define the study population[34–78,80–83].…”

Section: Resultsmentioning

confidence: 99%

“…Ninety-eight percent of them clearly define the study population[34–78,80–83]. In relation to representativeness of the controls, fifty-six percent were either population–based or healthy volunteers[36,38–42,45,46,48,51–53,55,58,62–65,67,69–72,74,77,80,82,83] and forty-five percent were both population-based and hospital-based/healthy volunteers/blood donors[34,35,37,43,44,47,49,50,54,56,57,59–61,66,68,73,75,76,78,79,81]. Sixty four percent of control matched only one variable (age, gender or ethnicity) with cases[36–40,42–48,50–54,56,57,62,66,68,69,71,73,75–79,81,82].…”

Section: Resultsmentioning

confidence: 99%

“…Ninety-two percent clearly described diagnosis for JME[35–53,55–78,80,82,83]. Seventy-eight percent of the studies had sample size larger than 200 (number of cases and controls)[38–41,43–68,70–73,76–79,82]. The majority (80%) did not perform genotyping under “blind” conditions (or did not mentioned this aspect).…”

Section: Resultsmentioning

confidence: 99%

“…The majority (80%) did not perform genotyping under “blind” conditions (or did not mentioned this aspect). Results of HWE analysis were reported in 70% of the studies[36–41,43,45–47,49–53,55,56,58–60,62–65,67–72,74,76–78,82]. Ninety percent of the studies assessed the association between genotypes and JME using X 2 test and logistic regression, according to Clarke et al[84][34–39,41–53,55–68,70–78,80–82].…”

Section: Resultsmentioning

confidence: 99%

See 3 more Smart Citations

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

et al. 2017

View full text Add to dashboard Cite

BackgroundSeveral genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies.MethodologyA systematic literature search was conducted using the PubMed, Embase, Scopus, Lilacs, epiGAD, Google Scholar and Sigle up to February 12, 2016. The quality of the included studies was assessed by a score and classified as low and high quality. Beyond outcome measures, information was extracted on the setting for each study, characteristics of population samples and polymorphisms.ResultsFifty studies met eligibility criteria and were used for data extraction. With a single exception, all studies used a candidate gene approach, providing data on 229 polymorphisms in or near 55 different genes. Of variants investigating in independent data sets, only rs2029461 SNP in GRM4, rs3743123 in CX36 and rs3918149 in BRD2 showed a significant association with JME in at least two different background populations. The lack of consistent associations might be due to variations in experimental design and/or limitations of the approach.ConclusionsThus, despite intense research evidence established, specific genetic variants in JME susceptibility remain inconclusive. We discussed several issues that may compromise the quality of the results, including methodological bias, endophenotype and potential involvement of epigenetic factors.PROSPERO registration numberCRD42016036063

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 2 more Smart Citations

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

et al. 2017

View full text Add to dashboard Cite

show abstract

“…Pharmacogenetic factors may play a key role in individualized sensitivity to antiepileptic drugs. Previous studies have identified several genetic factors that are involved in drug resistance in patients with epilepsy, such as ABCC2, SCN1A, SCN2A, KCNJ10, ATP1A2, and ATP1A3 (Escalante-Santiago et al, 2014;Ma et al, 2014;Guo et al, 2015;Qu et al, 2015;Wang et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

Association between the polymorphisms in the ATP-binding cassette genes ABCB1 and ABCC2 and the risk of drug-resistant epilepsy in a Chinese Han population

Xue¹,

Lu²

2016

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Epilepsy is a common disease of the nervous system; approximately 20-30% of all patients with epilepsy are reported resistant to antiepileptic drugs. ABCB1 and ABCC2 are members of ATP-binding cassette transporter (ABC) family that is involved in the excretion of antiepileptic drugs. In this case-control study, we have investigated the role of ABCB1 rs1045642 and rs2032582 and ABCC2 rs2273697 and rs717620 single nucleotide polymorphisms in antiepileptic drug-resistance in patients with epilepsy. A total of 254 patients with epilepsy (104 drug-resistant and 150 drug-responsive) were recruited from the People's Hospital of Wuhan University between March 2013 and April 2014. The correlation between the demographic, clinical, and genotypic characteristics of the patients and risk of drug resistance was statistically analyzed. Patients with drug-resistant epilepsy were more likely to present symptomatic epilepsy (c 2 = 22.29, P < 0.001) compared to those with drug-responsive epilepsy. The TT genotype of the ABCB1 rs717620 polymorphism was associated with 11-8.29]. The TT genotype of ABCB1 rs717620 was also related with an increased risk of drug-resistant epilepsy (OR = 2.64, 95%CI = 1.03-7.13) compared to the CC+CT genotype in the recessive model. Thus, our study suggests that the ABCC2 rs717620 polymorphism is associated with resistance to antiepileptic drugs in Chinese patients with epilepsy.

show abstract

Epilepsy with eyelid myoclonia in a patient with ATP1A3‐related neurologic disorder

Mertens,

Papadopoulou,

Papathanasiou Terzi

et al. 2024

Epileptic Disorders

View full text Add to dashboard Cite

We report on an 11 year old Polish girl who experienced paroxysmal episodes with decreased consciousness, (hemi)plegia, movement disorders, slurred speech, dysphagia, and abnormal eye movements. An extensive etiological work‐up (brain MRI, EEG, EMG, NCS, toxic, metabolic, infectious, and auto‐immune screening) was not conclusive. A genetic analysis with whole‐exome sequencing demonstrated a de novo heterozygous mutation in the ATP1A3 gene (c.2232C>G, p.Asn744Lys). A 48 h video‐EEG monitoring that was conducted in our unit later confirmed the absence of ictal discharge during an episode of hemidystonia, demonstrating its non‐epileptic etiology. However, several discharges of generalized spike waves, which were facilitated by intermittent photic stimulation and eyelid closure were recorded, of which a few were associated with eyelid myoclonia. Taken together, these findings are characteristic of epilepsy with eyelid myoclonia. The clinical picture of this patient partially fulfills the diagnostic criteria of relapsing encephalopathy with cerebellar ataxia as well as alternating hemiplegia of childhood. It is increasingly recognized that the distinct syndromes described with ATP1A3 mutations are overlapping and could be identified in the same patients. Certain variations in ATP1A3 have been linked to an increased risk of developing generalized epilepsy syndromes. We hereby present the second case in the literature of a patient with epilepsy with eyelid myoclonia with an ATP1A3‐related neurological disorder.

show abstract

Common variants of ATP1A3 but not ATP1A2 are associated with Chinese genetic generalized epilepsies

Cited by 13 publications

References 43 publications

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

Association between the polymorphisms in the ATP-binding cassette genes ABCB1 and ABCC2 and the risk of drug-resistant epilepsy in a Chinese Han population

Epilepsy with eyelid myoclonia in a patient with ATP1A3‐related neurologic disorder

Contact Info

Product

Resources

About