Genetic Basis of Hypsarrhythmia: Expanding the PHACTR1 Spectrum and Pathway to Targeted Therapy

IF 2.3 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-07-15 DOI:10.1111/cge.70024

Karen Willième, Annelies Dheedene, Arnaud Vanlander, Patrick Verloo, Helene Verhelst

引用次数: 0

Abstract

We report a 5-month-old girl with a novel PHACTR1 variant, presenting with infantile spasms and hypsarrhythmia. PHACTR1 encodes a protein with a unique actin- and phosphatase-binding structure, interacting with Slack (KCNT1-encoded), a Na⁺-activated K⁺-channel linked to epilepsy. This shared pathway may offer a promising avenue to future therapy.

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心律失常的遗传基础：扩展PHACTR1谱和靶向治疗途径

我们报告了一个5个月大的女孩与一个新的PHACTR1变异，表现为婴儿痉挛和心律失常。PHACTR1编码一种具有独特肌动蛋白和磷酸酶结合结构的蛋白质，与Slack （kcnt1编码）相互作用，Slack是一种与癫痫有关的Na+激活的K+通道。这种共享途径可能为未来的治疗提供一条有希望的途径。

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

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