Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Individuals who received epilepsy gene panel testing through Behind the Seizure(®), a sponsored genetic testing program (Cohort A), wer...

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Detalles Bibliográficos
Autores principales: Leal‐Pardinas, Fernanda, Truty, Rebecca, McKnight, Dianalee A., Johnson, Britt, Morales, Ana, Bristow, Sara L., Yar Pang, Tiffany, Cohen‐Pfeffer, Jessica, Izzo, Emanuela, Sankar, Raman, Koh, Sookyong, Wirrell, Elaine C., Millichap, John J., Aradhya, Swaroop
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545603/
https://www.ncbi.nlm.nih.gov/pubmed/35474188
http://dx.doi.org/10.1111/epi.17269

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545603/
https://www.ncbi.nlm.nih.gov/pubmed/35474188
http://dx.doi.org/10.1111/epi.17269

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