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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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.