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Article

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

Cold Spring Harbor molecular case studies - 1 Sept 2017

Farnaes Lauge, Nahas Shareef A, Chowdhury Shimul, Nelson James, Batalov Serge, Dimmock David M, Kingsmore Stephen F

Abstract excerpt

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 infantile spasms, interictal hypsarrhythmia, and mental retardation. Rapid trio whole-genome sequencing (WGS)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28864462
DOI: 10.1101/mcs.a001776
PMCID: PMC5593154

Genes

GABRA1

Variants

Provenance

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