吡哆醇依赖性癫(癎)的临床及分子遗传学研究进展
被引量:7
摘要
吡哆醇依赖性癫(pyridoxine dependent epilepsy,PDE)是一种常染色体隐性遗传病,也是婴幼儿期起病的难治性癫和癫性脑病之一。其特征为对大剂量的吡哆醇(维生素B6)治疗有效,而对常规的抗癫药效果欠佳。PDE最早由Hunt于1954年描述,确切患病率尚不清楚,少数报道差异很大,为1:2万~1:60万。
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2013年第11期867-870,共4页
Chinese Journal of Pediatrics
参考文献36
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共引文献3
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1胡春辉,王龙飞,王华.精准医学时期儿科神经可治性遗传病的个体化诊治进展[J].中华实用儿科临床杂志,2016,31(12):951-955. 被引量:1
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2杨志仙,薛姣.维生素B6相关性癫痫[J].中华实用儿科临床杂志,2016,31(24):1841-1848. 被引量:11
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3梅道启,梅世月,郑璇,陈国洪,王媛,毕文静,董世杰,胡香玉,杨秀安,王潇娜,张耀东.乙醛脱氢酶7家族成员A1基因突变致吡哆醇依赖性癫痫临床表型及遗传学分析[J].中华神经科杂志,2021,54(3):228-235.
同被引文献67
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引证文献7
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1周昀箐,张雅雯,王纪文.吡哆醇(胺)氧化酶缺乏的研究进展[J].癫痫杂志,2016,2(5):422-425.
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2詹琼,冯莉,岳宗伟,解媛媛,龙莉莉,肖波.癫痫泛化对呼吸障碍严重程度的影响[J].癫痫杂志,2016,2(5):383-386.
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3薛姣,杨志仙,李慧,钱萍,吴晔,姜玉武,刘晓燕.吡哆醇依赖性癫痫的临床和遗传学特点及尿液哌啶酸的检测[J].中华儿科杂志,2016,54(8):592-596. 被引量:10
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4张瑞,侯新琳.先天性代谢缺陷病脑损伤的临床及影像学特点[J].中国新生儿科杂志,2016,31(4):309-312. 被引量:2
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5杨志仙,薛姣.维生素B6相关性癫痫[J].中华实用儿科临床杂志,2016,31(24):1841-1848. 被引量:11
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6吕格,韩蕴丽.遗传性癫癎与药物精准治疗的研究进展[J].中国当代儿科杂志,2017,19(10):1118-1123. 被引量:1
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7焦莶如,薛姣,龚潘,吴晔,杨志仙.PLPBP基因突变导致吡哆醇依赖性癫痫1例并文献复习[J].中华实用儿科临床杂志,2020,35(12):934-937. 被引量:2
二级引证文献25
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1薛姣,杨志仙,王爽,张月华.临床表现不典型的吡哆醇依赖性癫痫一例[J].中华儿科杂志,2016,54(11):861-862. 被引量:4
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3吕格,韩蕴丽.遗传性癫癎与药物精准治疗的研究进展[J].中国当代儿科杂志,2017,19(10):1118-1123. 被引量:1
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4于修贤,王乐,秦娜,陈璇,邓艳春.维生素B_6依赖性癫诊断及治疗研究进展[J].人民军医,2017,60(8):809-812.
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7欧阳梅,周青,李花,胡湘蜀,费凌霞,张佩琪,金洋,胡玮冰,李恺煇,彭凯,周锦华.晚发型吡多醇依赖性癫痫的临床相关研究[J].癫痫杂志,2017,3(6):484-489.
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