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...

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Detalles Bibliográficos
Autores principales: Wong‐Spracklen, Vivien M. Y., Kolesnik, Anna, Eck, Josefine, Sabanathan, Saras, Spasic‐Boskovic, Olivera, Maw, Anna, Baker, Kate
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
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

Internet

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

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