De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Author:

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.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference58 articles.

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2. The genetics of neurodevelopmental disease;Mitchell;Curr. Opin. Neurobiol.,2011

3. Genomic copy number variation in disorders of cognitive development;Morrow;J. Am. Acad. Child Adolesc. Psychiatry,2010

4. Phenotypic variability and genetic susceptibility to genomic disorders;Girirajan;Hum. Mol. Genet.,2010

5. Evolutionary evidence of the effect of rare variants on disease etiology;Gorlov;Clin. Genet.,2011

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