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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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| Izdano u: | Hum Genome Var |
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| Glavni autori: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group UK
2020
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| Teme: | |
| Online pristup: | 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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