Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

Epilepsy is one of the most common childhood-onset neurological conditions with a genetic etiology. Genetic diagnosis provides potential for etiologically-based management and treatment. Existing research has focused on early-onset (<24 months) epilepsies; data regarding later-onset epilepsies is...

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Detalles Bibliográficos
Autores principales: Gall, Kimberly, Izzo, Emanuela, Seppälä, Eija H., Alakurtti, Kirsi, Koskinen, Lotta, Saarinen, Inka, Singh, Akashdeep, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8409681/
https://www.ncbi.nlm.nih.gov/pubmed/34469436
http://dx.doi.org/10.1371/journal.pone.0255933

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8409681/
https://www.ncbi.nlm.nih.gov/pubmed/34469436
http://dx.doi.org/10.1371/journal.pone.0255933

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