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Biallelic CACNA1A variants: Review of literature and report of a child with drug‐resistant epilepsy and developmental delay
Biallelic variants in CACNA1A have previously been reported in nine individuals (four families) presenting with epilepsy and cognitive impairments of variable severity and age‐of‐onset. Here, we describe a child who presented at 6 months of age with drug‐resistant epilepsy and developmental delay. A...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826308/ https://www.ncbi.nlm.nih.gov/pubmed/36063114 http://dx.doi.org/10.1002/ajmg.a.62960 |