Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy

OBJECTIVE: Early onset drug‐resistant epilepsy is a neurologic disorder in which 2 antiepileptic drugs fail to maintain the seizure‐free status of the patient. Heterogeneous clinical presentations make the diagnosis challenging. We aim to identify the underlying genetic causes of a pediatric cohort...

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Detalles Bibliográficos
Autores principales: Tsang, Mandy Ho‐Yin, Leung, Gordon Ka‐Chun, Ho, Alvin Chi‐Chung, Yeung, Kit‐San, Mak, Christopher Chun‐Yu, Pei, Steven Lim‐Cho, Yu, Mullin Ho‐Chung, Kan, Anita Sik‐Yau, Chan, Kelvin Yuen‐Kwong, Kwong, Karen Ling, Lee, So‐Lun, Yung, Ada Wing‐Yan, Fung, Cheuk‐Wing, Chung, Brian Hon‐Yin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Full‐length Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398105/
https://www.ncbi.nlm.nih.gov/pubmed/30868116
http://dx.doi.org/10.1002/epi4.12282

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398105/
https://www.ncbi.nlm.nih.gov/pubmed/30868116
http://dx.doi.org/10.1002/epi4.12282

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