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A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review
In the recent 3 years, subjects with Pumilio1-associated developmental disability, ataxia, and seizure syndrome have been identified as harboring Pumilio homolog 1 (PUM1) mutations. However, the characteristics of the seizure phenotype remain to be elucidated. We herein described a 3-year-old female...
| 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/PMC8978559/ https://www.ncbi.nlm.nih.gov/pubmed/35386260 http://dx.doi.org/10.3389/fped.2022.759889 |