Neurological Phenotypes of 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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2023-05-01
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| Series: | Journal of Central Nervous System Disease |
| Online Access: | https://doi.org/10.1177/11795735231181467 |
| _version_ | 1797804904602927104 |
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| author | Dafne Dain Gandelman Horovitz Maria Angelica de Faria Domingues de Lima Lais de Carvalho Pires Abelardo de Queiroz Campos Araujo Fernando Regla Vargas |
| author_facet | Dafne Dain Gandelman Horovitz Maria Angelica de Faria Domingues de Lima Lais de Carvalho Pires Abelardo de Queiroz Campos Araujo Fernando Regla Vargas |
| author_sort | Dafne Dain Gandelman Horovitz |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-13T05:44:04Z |
| format | Article |
| id | doaj.art-b6933ea81386483188c6e09775ae2abd |
| institution | Directory Open Access Journal |
| issn | 1179-5735 |
| language | English |
| last_indexed | 2024-03-13T05:44:04Z |
| publishDate | 2023-05-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Journal of Central Nervous System Disease |
| spelling | doaj.art-b6933ea81386483188c6e09775ae2abd2023-06-13T21:03:26ZengSAGE PublishingJournal of Central Nervous System Disease1179-57352023-05-011510.1177/11795735231181467Neurological Phenotypes of Gene Variants: A Report of Four Novel VariantsDafne Dain Gandelman HorovitzMaria Angelica de Faria Domingues de LimaLais de Carvalho PiresAbelardo de Queiroz Campos AraujoFernando Regla VargasIRF2BPL 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.https://doi.org/10.1177/11795735231181467 |
| spellingShingle | Dafne Dain Gandelman Horovitz Maria Angelica de Faria Domingues de Lima Lais de Carvalho Pires Abelardo de Queiroz Campos Araujo Fernando Regla Vargas Neurological Phenotypes of Gene Variants: A Report of Four Novel Variants Journal of Central Nervous System Disease |
| title | Neurological Phenotypes of Gene Variants: A Report of Four Novel Variants |
| title_full | Neurological Phenotypes of Gene Variants: A Report of Four Novel Variants |
| title_fullStr | Neurological Phenotypes of Gene Variants: A Report of Four Novel Variants |
| title_full_unstemmed | Neurological Phenotypes of Gene Variants: A Report of Four Novel Variants |
| title_short | Neurological Phenotypes of Gene Variants: A Report of Four Novel Variants |
| title_sort | neurological phenotypes of gene variants a report of four novel variants |
| url | https://doi.org/10.1177/11795735231181467 |
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