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Article

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

American journal of human genetics - 9 Mar 2012

Veeramah Krishna R, O'Brien Janelle E, Meisler Miriam H, Cheng Xiaoyang, Dib-Hajj Sulayman D, Waxman Stephen G, Talwar Dinesh, Girirajan Santhosh, Eichler Evan E, Restifo Linda L, Erickson Robert P, Hammer Michael F

Abstract excerpt

Individuals with severe, sporadic disorders of infantile onset represent an important class of disease for which discovery of the underlying genetic architecture is not amenable to traditional genetic analysis. Full-genome sequencing of affected individuals and their parents provides a powerful alternative strategy for gene discovery. We performed whole-genome sequencing (WGS) on a family quartet containing an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22365152
DOI: 10.1016/j.ajhg.2012.01.006
PMCID: PMC3309181

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