Immediate Therapeutic Response to Vigabatrin in Lissencephaly-Related Epileptic Spasms due to TUBA1A R402H Variant.

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY

American Journal of Medical Genetics Part A Pub Date : 2025-02-25 DOI:10.1002/ajmg.a.64030

Toru Nagata, Takashi Shibata, Hiroki Tsuchiya, Mari Akiyama, Mitsuhiro Kato, Tomoyuki Akiyama, Toshiki Takenouchi

引用次数: 0

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TUBA1A R402H变异引起的缺脑症相关癫痫痉挛，Vigabatrin即刻治疗反应

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .