New SMARCA2 mutation in a patient with Nicolaides–Baraitser syndrome and myoclonic astatic epilepsy

We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides–Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on e...

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Detalles Bibliográficos
Autores principales: Tang, S., Hughes, E., Lascelles, K., Simpson, M. A., Pal, D. K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516167/
https://www.ncbi.nlm.nih.gov/pubmed/27665729
http://dx.doi.org/10.1002/ajmg.a.37935

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516167/
https://www.ncbi.nlm.nih.gov/pubmed/27665729
http://dx.doi.org/10.1002/ajmg.a.37935

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