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Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality
Subependymal heterotopia (SEH) is a rare neuronal migration disorder consisting of gray matter nodules along the lateral ventricular walls and is often associated with other brain malformations. Despite most SEH cases showing epilepsy during their lifetimes, very few patients with asymptomatically f...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9364927/ https://www.ncbi.nlm.nih.gov/pubmed/35968360 http://dx.doi.org/10.3389/fnins.2022.956545 |
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author | Lv, Bin Zhou, Yushan Zeng, Jianguang Wang, Ling Zhao, Fumin Chen, Huizhu Li, Xuesheng Song, Yu Xiao, Mei Ding, Zhiyong Cheng, Bochao |
author_facet | Lv, Bin Zhou, Yushan Zeng, Jianguang Wang, Ling Zhao, Fumin Chen, Huizhu Li, Xuesheng Song, Yu Xiao, Mei Ding, Zhiyong Cheng, Bochao |
author_sort | Lv, Bin |
collection | PubMed |
description | Subependymal heterotopia (SEH) is a rare neuronal migration disorder consisting of gray matter nodules along the lateral ventricular walls and is often associated with other brain malformations. Despite most SEH cases showing epilepsy during their lifetimes, very few patients with asymptomatically familial SEH tend to cause misdiagnosis or missed diagnosis. We present four familial SEH cases without any positive symptoms and medical history, including two fetuses, who were diagnosed by MRI and confirmed by genetic testing with mutation of filamin A. This report emphasizes the role of MRI in the recognition of SEH at an early age of gestation and in asymptomatically familial SEH. MRI provides a fast, repeatable, reliable, and cheap choice for detecting and screening familial SEH. |
format | Online Article Text |
id | pubmed-9364927 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93649272022-08-11 Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality Lv, Bin Zhou, Yushan Zeng, Jianguang Wang, Ling Zhao, Fumin Chen, Huizhu Li, Xuesheng Song, Yu Xiao, Mei Ding, Zhiyong Cheng, Bochao Front Neurosci Neuroscience Subependymal heterotopia (SEH) is a rare neuronal migration disorder consisting of gray matter nodules along the lateral ventricular walls and is often associated with other brain malformations. Despite most SEH cases showing epilepsy during their lifetimes, very few patients with asymptomatically familial SEH tend to cause misdiagnosis or missed diagnosis. We present four familial SEH cases without any positive symptoms and medical history, including two fetuses, who were diagnosed by MRI and confirmed by genetic testing with mutation of filamin A. This report emphasizes the role of MRI in the recognition of SEH at an early age of gestation and in asymptomatically familial SEH. MRI provides a fast, repeatable, reliable, and cheap choice for detecting and screening familial SEH. Frontiers Media S.A. 2022-07-27 /pmc/articles/PMC9364927/ /pubmed/35968360 http://dx.doi.org/10.3389/fnins.2022.956545 Text en Copyright © 2022 Lv, Zhou, Zeng, Wang, Zhao, Chen, Li, Song, Xiao, Ding and Cheng. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neuroscience Lv, Bin Zhou, Yushan Zeng, Jianguang Wang, Ling Zhao, Fumin Chen, Huizhu Li, Xuesheng Song, Yu Xiao, Mei Ding, Zhiyong Cheng, Bochao Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality |
title | Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality |
title_full | Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality |
title_fullStr | Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality |
title_full_unstemmed | Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality |
title_short | Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality |
title_sort | cases report: mri findings of asymptomatically familial subependymal heterotopia with filamin a gene abnormality |
topic | Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9364927/ https://www.ncbi.nlm.nih.gov/pubmed/35968360 http://dx.doi.org/10.3389/fnins.2022.956545 |
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