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Updated: Jun 12, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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与PPP3CA基因相关的发育性和性脑病变:扩大电临床现象型

Jacopo Favaro1, Alessandro Iodice2, Margherita Nosadini1

  • 1Department of Women's and Child's Health, University of Padua, Padua, Italy; Paediatric Neurology and Neurophysiology Unit - University Hospital of Padua, Padova, Italy.

Seizure
|September 21, 2024
PubMed
概括

这项研究描述了PPPP3CA基因相关的发育性和性脑病变 (DEE),根据变异位置揭示了不同的表型. 监管领域的致病变体与严重的,耐药性和潜在的致命结果有关.

关键词:
氨酸是氨酸中的一种.与相关的发病发生.发育性和性脑病变,发育性和性脑病变.药物耐药性的治疗方法基因型-表型相关性相关性

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相关概念视频

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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