The phenotypic spectrum of YWHAG-related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy

IF 3.8 2区医学 Q1 CLINICAL NEUROLOGY

Developmental Medicine and Child Neurology Pub Date : 2025-04-27 DOI:10.1111/dmcn.16333

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Abstract

This study aimed to investigate the phenotypic spectrum and genotype–phenotype correlation in YWHAG-related epilepsy. We performed a comprehensive analysis of clinical data from 15 patients in our Chinese cohort and compared these findings with data from 40 patients documented in previous studies. Our investigation identified seven novel and five unique genetic variations in our cohort.

The results indicate that the majority of affected children experienced their first seizure within the first 2 years of life, with generalized tonic–clonic seizures (GTCS) and myoclonic seizures being the predominant seizure types observed. The phenotypic spectrum of YWHAG-related epilepsy ranged from mild febrile seizures plus to severe developmental and epileptic encephalopathy.

Significantly, most variants were localized within the highly conserved triad (HCT) domain Arg132-Arg57-Tyr133 of the YWHAG, whereas variations occurring outside this domain were generally associated with milder phenotype. Seizure control was achieved in seven children, primarily through the administration of valproate and levetiracetam.

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ywhag相关癫痫的表型谱：从轻度发热性癫痫发作到严重发育迟缓和癫痫性脑病

本研究旨在探讨ywhag相关性癫痫的表型谱和基因型-表型相关性。我们对中国队列中15名患者的临床数据进行了全面分析，并将这些发现与先前研究中记录的40名患者的数据进行了比较。我们的调查在我们的队列中确定了七个新的和五个独特的遗传变异。结果表明，大多数患儿在出生后2年内首次发作，以全身性强直-阵挛性发作（GTCS）和肌阵挛性发作为主要发作类型。ywhag相关癫痫的表型谱范围从轻度热性发作加到严重的发育性和癫痫性脑病。值得注意的是，大多数变异位于YWHAG的高度保守的三联体结构域Arg132-Arg57-Tyr133内，而发生在该结构域之外的变异通常与较温和的表型相关。7名儿童的癫痫发作得到控制，主要是通过丙戊酸钠和左乙拉西坦。

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

Developmental Medicine and Child Neurology 医学-临床神经学

CiteScore

7.80

自引率

13.20%

发文量

338

审稿时长

3-6 weeks

期刊介绍： Wiley-Blackwell is pleased to publish Developmental Medicine & Child Neurology (DMCN), a Mac Keith Press publication and official journal of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) and the British Paediatric Neurology Association (BPNA). For over 50 years, DMCN has defined the field of paediatric neurology and neurodisability and is one of the world’s leading journals in the whole field of paediatrics. DMCN disseminates a range of information worldwide to improve the lives of disabled children and their families. The high quality of published articles is maintained by expert review, including independent statistical assessment, before acceptance.