학술논문
Homozygous Frameshift Mutation in the ATP1A2 Gene Leading to Severe Pseudo-TORCH Syndrome.
Document Type
Article
Author
Source
Subject
*FRAMESHIFT mutation
*GENETIC mutation
*CONGENITAL disorders
*FACIAL abnormalities
*SYNDROMES
*EPILEPSY
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*
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Language
ISSN
0174-304X
Abstract
This article, published in the journal Neuropediatrics, discusses a rare group of disorders known as Pseudo-TORCH syndromes (PTS). These disorders are characterized by microcephaly, cerebral calcification, polymicrogyria, and seizures at birth that resemble the effects of congenital infection. The article presents a case study of a girl with PTS caused by a homozygous frameshift mutation in the ATP1A2 gene. The girl exhibited severe symptoms including facial dysmorphism, hypotonia, respiratory insufficiency, and treatment-resistant epilepsy. The study highlights the importance of considering homozygous mutations of ATP1A2 in the differential diagnosis of children presenting with PTS. [Extracted from the article]