Child Neurology: TRAPPC4-Related Neurodevelopmental Disorder.

IF 7.7 1区医学 Q1 CLINICAL NEUROLOGY

Neurology Pub Date : 2025-05-13 Epub Date: 2025-04-02 DOI:10.1212/WNL.0000000000213538

Andreia Forno, Joana Oliveira, Marta Zegre Amorim, Carla Conceição, Paulo Rego Sousa

引用次数: 0

Abstract

Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, first described in 2020, is associated with autosomal recessive inheritance of pathogenic variant in the TRAPPC4 gene. Given a relatively high carrier frequency, it is crucial to recognize and consider this diagnosis. We report 2 sisters with pathogenic homozygous variants (c.454+3A>G) in the TRAPPC4 gene, diagnosed after an extensive and time-consuming clinical investigation. This report reviews the phenotypic spectrum of TRAPPC4-related neurodevelopmental disorder, particularly homozygous pathogenic variant c.454+3A>G in TRAPPC4, to raise awareness of this diagnosis.

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儿童神经病学：trappc4相关神经发育障碍。

神经发育障碍伴癫痫、痉挛和脑萎缩，于2020年首次报道，与TRAPPC4基因致病变异的常染色体隐性遗传有关。鉴于载波频率相对较高，认识和考虑这种诊断是至关重要的。我们报告了两个姐妹，在TRAPPC4基因中具有致病性纯合变异体（c.454+3A>G），经过广泛而耗时的临床研究后诊断出来。本报告回顾了TRAPPC4相关神经发育障碍的表型谱，特别是TRAPPC4的纯合子致病变异c.454+3A>G，以提高对该诊断的认识。

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

Neurology 医学-临床神经学

CiteScore

12.20

自引率

4.00%

发文量

1973

审稿时长

2-3 weeks

期刊介绍： Neurology, the official journal of the American Academy of Neurology, aspires to be the premier peer-reviewed journal for clinical neurology research. Its mission is to publish exceptional peer-reviewed original research articles, editorials, and reviews to improve patient care, education, clinical research, and professionalism in neurology. As the leading clinical neurology journal worldwide, Neurology targets physicians specializing in nervous system diseases and conditions. It aims to advance the field by presenting new basic and clinical research that influences neurological practice. The journal is a leading source of cutting-edge, peer-reviewed information for the neurology community worldwide. Editorial content includes Research, Clinical/Scientific Notes, Views, Historical Neurology, NeuroImages, Humanities, Letters, and position papers from the American Academy of Neurology. The online version is considered the definitive version, encompassing all available content. Neurology is indexed in prestigious databases such as MEDLINE/PubMed, Embase, Scopus, Biological Abstracts®, PsycINFO®, Current Contents®, Web of Science®, CrossRef, and Google Scholar.