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Novel ARX mutation identified in infantile spasm syndrome patient
We report a 7-year-old boy with infantile spasms caused by a novel mutation in the Aristaless-related homeobox (ARX) gene. He showed infantile spasms and hypsarrhythmia on electroencephalogram from early infancy. Brain MRI did not reveal severe malformation of the brain except mild hypoplasia of the...
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| 出版年: | Hum Genome Var |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group UK
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7109071/ https://ncbi.nlm.nih.gov/pubmed/32257294 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-0094-2 |
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