Vestibular Migraine (VM) is a common neurological disorder characterized by recurrent episodes of vertigo and migraine symptoms. The pathogenesis of VM is complex and involves multiple genetic and environmental factor...Vestibular Migraine (VM) is a common neurological disorder characterized by recurrent episodes of vertigo and migraine symptoms. The pathogenesis of VM is complex and involves multiple genetic and environmental factors. Recent studies have suggested that the pathogenesis of vestibular migraine may be associated with variations in the CACNA1A gene, which is an important gene target for controlling calcium ion channels. Such variations may further affect the functions of the vestibular nervous system, thereby causing a series of vestibular nervous system-related symptoms. This article will summarize the genetic association studies of vestibular migraine, vestibular function studies, and research on how to establish relevant animal models to illustrate the possible association between CACNA1A variations and the pathogenesis of VM, providing new ideas for clarifying the pathogenesis of VM.展开更多
目的报道CACNA1E基因变异所致难治性癫痫的临床特征。方法回顾分析1例CACNA1E基因变异所致难治性癫痫患儿的临床资料。结果患儿,男,1岁6个月,因难治性癫痫伴智力运动发育落后就诊。患儿四肢肌张力降低,有严重的癫痫脑病表现,基因检测提...目的报道CACNA1E基因变异所致难治性癫痫的临床特征。方法回顾分析1例CACNA1E基因变异所致难治性癫痫患儿的临床资料。结果患儿,男,1岁6个月,因难治性癫痫伴智力运动发育落后就诊。患儿四肢肌张力降低,有严重的癫痫脑病表现,基因检测提示患儿携带CACNA1E基因c.4258(exon 30)G>A(NM_001205293)新发杂合变异,而其父母该位点均为野生型。根据ACMG(The American College of Medical Genetics and Genomics)标准与指南(2015),该变异为可能致病性变异。结论对难治性癫痫伴有智力运动发育落后、四肢肌张力低下的患儿应尽早完善基因检测,以明确诊断。展开更多
文摘Vestibular Migraine (VM) is a common neurological disorder characterized by recurrent episodes of vertigo and migraine symptoms. The pathogenesis of VM is complex and involves multiple genetic and environmental factors. Recent studies have suggested that the pathogenesis of vestibular migraine may be associated with variations in the CACNA1A gene, which is an important gene target for controlling calcium ion channels. Such variations may further affect the functions of the vestibular nervous system, thereby causing a series of vestibular nervous system-related symptoms. This article will summarize the genetic association studies of vestibular migraine, vestibular function studies, and research on how to establish relevant animal models to illustrate the possible association between CACNA1A variations and the pathogenesis of VM, providing new ideas for clarifying the pathogenesis of VM.
文摘目的报道CACNA1E基因变异所致难治性癫痫的临床特征。方法回顾分析1例CACNA1E基因变异所致难治性癫痫患儿的临床资料。结果患儿,男,1岁6个月,因难治性癫痫伴智力运动发育落后就诊。患儿四肢肌张力降低,有严重的癫痫脑病表现,基因检测提示患儿携带CACNA1E基因c.4258(exon 30)G>A(NM_001205293)新发杂合变异,而其父母该位点均为野生型。根据ACMG(The American College of Medical Genetics and Genomics)标准与指南(2015),该变异为可能致病性变异。结论对难治性癫痫伴有智力运动发育落后、四肢肌张力低下的患儿应尽早完善基因检测,以明确诊断。
