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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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Publicat a:Cold Spring Harb Mol Case Stud
Autors principals: Farnaes, Lauge, Nahas, Shareef A., Chowdhury, Shimul, Nelson, James, Batalov, Serge, Dimmock, David M., Kingsmore, Stephen F.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5593154/
https://ncbi.nlm.nih.gov/pubmed/28864462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001776
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