Carregant...
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...
Guardat en:
Publicat a: | Cold Spring Harb Mol Case Stud |
---|---|
Autors principals: | , , , , , , |
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 |
Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|