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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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Bibliografske podrobnosti
izdano v:Cold Spring Harb Mol Case Stud
Main Authors: Farnaes, Lauge, Nahas, Shareef A., Chowdhury, Shimul, Nelson, James, Batalov, Serge, Dimmock, David M., Kingsmore, Stephen F.
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2017
Teme:
Online dostop: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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