Considerably increasing the number of mutation carriers with these mutations indicated a clear genotype–phenotype correlation: both mutations are associated with pure FHM. In addition, we show that recurrent mutations for ATP1A2 are more frequent than previously thought, which has implications for ...
[参考文献] Kornbluh AB, Chung MG. Teaching NeuroImages: Transient cytotoxic edema in a child with a novel ATP1A2 mutation. Neurology. 2020 Sep 8;95(10):e1441-e1442. 温馨提醒
In one family an ATP1A2 gene mutation segregated with basilar-type migraine (Ambrosini et al., 2005), a subtype of migraine with aura characterized by aura symptoms attributable to the brainstem and both occipital lobes. In two non-FHM migraine families, ATP1A2 variants were identified, ...
此病例显示早期干预可以有效地降低脑病的严重程度和持续时间,并为FHM2急性重型脑病提供更多可行的治疗方案及有益参考。 Fig. 1 The family tree of ATP1A2 mutation: squares indicate male; circles indicate female; filled shapes are affected; black arrow is proband.Chromatograms showing the mutations and res...
Clinical benefit of NMDA receptor antagonists in a patient with ATP1A2 gene mutation[J]. Pediatrics, 2018,141Suppl 5:S390-S394. DOI: 10.1542/peds.2017-0852 . 返回引文位置Google Scholar 百度学术 万方数据备注信息 A 通信作者:孙丹,Email: moc.361revirevolb B 引用本文: 张华勇, 马洁卉, ...
The α2β2 isoform combination dominates the astrocytic Na(+) /K(+) -ATPase activity and is rendered nonfunctional by the α2.G301R familial hemiplegic migraine type 2-associated mutation. Authors - Anca Stoica View Article human WB,IF Biomed Pharmacother Rebound effects of NCX3 pharmacological...
分类号:R742.3密级:单位代码:10422学号:200712898◎厶茹夕;孥夕≯办/’a硕士学位论文ShandongUniversityMaster’sThesis论文题目:儿童交替性偏瘫家系ATPlA2基因检测TheATPlA2genemutationdetetionofaaIternatinghemiPIegiaof‘iIdhoodram。IYmIPIchIdhoodamIOtl作者:**专业:神经病学导师:**教授合作导师:20**年5月10日...
There are familial and sporadic cases, both on a genetic basis; we describe the case of a 6-year-old boy affected by sporadic hemiplegic migraine, showing a novel ATP1A2 gene missense mutation (p.Gly715Arg) in exon 16. Long-term treatment with flunarizine resulted in good clinical ...
Results: No mutation was found in the FHM1 gene while three mutations were identified in the FHM2 gene. All three mutations were missense: two were novel and one was de novo; none was found in controls. Functional studies in HeLa cells showed complete loss of mutant pump function without ...
As a result, we considered the c.571G4A variant in the ATP1A2 gene as the only remaining candidate mutation. This missense variant changed guanine to adenine at the nucleotide position 571 (NP_000693.1), and it was predicted to result in a valine to methionine substitution (p.(Val191Met)...