Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants

IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset...

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Autores principales: Horovitz, Dafne Dain Gandelman, de Faria Domingues de Lima, Maria Angelica, Pires, Lais de Carvalho, Campos Araujo, Abelardo de Queiroz, Vargas, Fernando Regla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280516/
https://www.ncbi.nlm.nih.gov/pubmed/37346291
http://dx.doi.org/10.1177/11795735231181467
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author Horovitz, Dafne Dain Gandelman
de Faria Domingues de Lima, Maria Angelica
Pires, Lais de Carvalho
Campos Araujo, Abelardo de Queiroz
Vargas, Fernando Regla
author_facet Horovitz, Dafne Dain Gandelman
de Faria Domingues de Lima, Maria Angelica
Pires, Lais de Carvalho
Campos Araujo, Abelardo de Queiroz
Vargas, Fernando Regla
author_sort Horovitz, Dafne Dain Gandelman
collection PubMed
description IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression.
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spelling pubmed-102805162023-06-21 Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants Horovitz, Dafne Dain Gandelman de Faria Domingues de Lima, Maria Angelica Pires, Lais de Carvalho Campos Araujo, Abelardo de Queiroz Vargas, Fernando Regla J Cent Nerv Syst Dis Case Series IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression. SAGE Publications 2023-06-13 /pmc/articles/PMC10280516/ /pubmed/37346291 http://dx.doi.org/10.1177/11795735231181467 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Series
Horovitz, Dafne Dain Gandelman
de Faria Domingues de Lima, Maria Angelica
Pires, Lais de Carvalho
Campos Araujo, Abelardo de Queiroz
Vargas, Fernando Regla
Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
title Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
title_full Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
title_fullStr Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
title_full_unstemmed Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
title_short Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
title_sort neurological phenotypes of irf2bpl gene variants: a report of four novel variants
topic Case Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280516/
https://www.ncbi.nlm.nih.gov/pubmed/37346291
http://dx.doi.org/10.1177/11795735231181467
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