Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome

A 9-mo-old infant was admitted with infantile spasms that improved on administration of topiramate and steroids. He also had developmental delay, esotropia, and hypsarrhythmia on interictal electroencephalogram (EEG), and normal brain magnetic resonance imaging (MRI). West syndrome is the triad of i...

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Detalles Bibliográficos
Autores principales: Farnaes, Lauge, Nahas, Shareef A., Chowdhury, Shimul, Nelson, James, Batalov, Serge, Dimmock, David M., Kingsmore, Stephen F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593154/
https://www.ncbi.nlm.nih.gov/pubmed/28864462
http://dx.doi.org/10.1101/mcs.a001776

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593154/
https://www.ncbi.nlm.nih.gov/pubmed/28864462
http://dx.doi.org/10.1101/mcs.a001776

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