[No authors listed]
Epilepsy is a common complex neurological disorder, and some forms are resistant to drug treatment. The HCN1/HCN2 genes encode hyperpolarization-activated cyclic nucleotide-gated channels, which play important roles in the electrophysiology of neurons. We investigated the association between HCN1/HCN2 variants and drug resistance or the risk of genetic generalized epilepsies (GGEs). We used matrix-assisted laser desorption/ionization time-of-flight mass spectrometry to assess nine variants of HCN1/HCN2 in 284 healthy participants and 483 GGEs (279 drug-responsive, 204 drug-resistant). Frequencies of HCN2 rs7255568 and rs3752158Â G alleles differed in GGEs and in controls (PÂ =Â .039, PÂ =Â .027, respectively). The frequency of HCN2 haplotype (CAC) was higher in patients than controls (PÂ =Â .046). The frequency of the HCN1 rs10462087 CC+CT genotype was lower in patients with childhood absence epilepsy (CAE) than controls (PÂ =Â .047). Rs7255568 was associated with the risk of CAE (PÂ =Â .028) and juvenile myoclonic epilepsy (JME) (PÂ =Â .02). Rs3752158 was associated with the risk of generalized tonic-clonic seizures, JME, and febrile seizures (all PÂ <Â .05). The frequency of the HCN2 haplotype (CAC) was higher in patients with JME (PÂ =Â .015) and in those with febrile seizures (PÂ =Â .024) than in controls. No significant association was found between HCN1/HCN2 alleles, genotypes or haplotypes, and drug resistance in patients. After Bonferroni's multiple comparisons correction, only the HCN2 rs3752158 C allele and GC+CC genotype frequencies in patients with JME were higher than those in controls (19.2% vs 11.6%, odds ratio (OR)Â =Â 1.71, 95%Â CIÂ =Â 1.18-2.32), PÂ =Â .004Â <Â 0.05/9; 36% vs 22.2%, ORÂ =Â 1.62(1.18-2.23), PÂ =Â .003Â <Â 0.05/9). Our study suggests that HCN2 rs3752158 is involved in the susceptibility to JME.
KEYWORDS: {{ getKeywords(articleDetailText.words) }}
Sample name | Organism | Experiment title | Sample type | Library instrument | Attributes | |||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
{{attr}} | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
{{ dataList.sampleTitle }} | {{ dataList.organism }} | {{ dataList.expermentTitle }} | {{ dataList.sampleType }} | {{ dataList.libraryInstrument }} | {{ showAttributeName(index,attr,dataList.attributes) }} |
{{ list.authorName }} {{ list.authorName }} |