The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

BACKGROUND: Despite remarkable advances in genetic testing, many adults with syndromic epilepsy remain without a molecular diagnosis. The challenge in providing genetic testing for this patient population lies in the extensive genetic heterogeneity associated with epilepsy. Even for the subset of ep...

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Detalles Bibliográficos
Autores principales: McDonell, Laura M, Warman Chardon, Jodi, Schwartzentruber, Jeremy, Foster, Denise, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, Boycott, Kym M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3916514/
https://www.ncbi.nlm.nih.gov/pubmed/24479948
http://dx.doi.org/10.1186/1471-2377-14-22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3916514/
https://www.ncbi.nlm.nih.gov/pubmed/24479948
http://dx.doi.org/10.1186/1471-2377-14-22

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