由FGF12致病变异引起的DEE患者的骤停：提醒监测心功能

IF 2.3 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-07-10 DOI:10.1111/cge.70018

Johanne Piotrowski, Élise Schaefer, Michael Kuntz, Virginie Bois, Franz Schieffer, Laurence Jesel, Margaux Biehler, Anne De Saint Martin, Sarah Baer

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引用次数: 0

摘要

我们报告了首例已知的9岁男性早发性癫痫、晕厥和7岁时起搏器植入与FGF12致病性变异相关的病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac Function

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Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac Function

We report the first known case of a 9-year-old male with early-onset epilepsy, syncope, and ictal asystole–requiring pacemaker implantation at the age of seven–associated with a pathogenic variant in FGF12.

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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