与癫痫性脑病有关的 FGF12 拷贝数变异。

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2024-05-08 DOI:10.1111/cge.14542

Anna Abraham, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Wayne Jepsen, Chris Balak, Meredith Sanchez-Castillo, Marcus Naymik, Anna Bonfitto, Sampathkumar Rangasamy, Semyon Kruglyak, Matthew Huentelman, Vinodh Narayanan

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引用次数: 0

摘要

与 FGF12 相关的癫痫表现型各不相同。我们报告了另一名 FGF12 基因重复的患者，其表现与其他已发表的病例相似，早期发育正常，对苯妥英类药物有反应。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

FGF12 copy number variant associated with epileptic encephalopathy

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FGF12 copy number variant associated with epileptic encephalopathy

FGF12 related epilepsy presents with variable phenotypes. We report another patient with a duplication involving the FGF12 gene who presented similar to other published cases having normal early development and responded to phenytoin.

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来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease