Journal article
De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy
Samuel F Berkovic, Tracy Dixon-Salazar, David B Goldstein, Erin L Heinzen, Brandon L Laughlin, Daniel H Lowenstein, Laura Lubbers, Julie Milder, Randall Stewart, Vicky Whittemore, Kaitlin Angione, Carl W Bazil, Louise Bier, Judith Bluvstein, Elise Brimble, Colleen Campbell, Chelsea Chambers, Hyunmi Choi, Maria Roberta Cilio, Michael Ciliberto Show all
GENETICS IN MEDICINE | NATURE PUBLISHING GROUP | Published : 2018
DOI: 10.1038/gim.2017.100
Abstract
PurposeAs part of the Epilepsy Genetics Initiative, we re-evaluated clinically generated exome sequence data from 54 epilepsy patients and their unaffected parents to identify molecular diagnoses not provided in the initial diagnostic interpretation.MethodsWe compiled and analyzed exome sequence data from 54 genetically undiagnosed trios using a validated analysis pipeline. We evaluated the significance of the genetic findings by reanalyzing sequence data generated at Ambry Genetics, and from a number of additional case and control cohorts.ResultsIn 54 previously undiagnosed trios, we identified two de novo missense variants in SCN8A in the highly expressed alternative exon 5 A-an exon only ..
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Grants
Awarded by Citizens United for Research in Epilepsy
Awarded by National Institute for Neurological Disorders and Stroke
Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Funding Acknowledgements
The authors acknowledge Citizens United for Research in Epilepsy (339143) and the National Institute for Neurological Disorders and Stroke (U01-NS077303-04S1) for providing the funding to make this research possible. We thank the patients and families enrolled in the EGI for their participation in this research and dedication to furthering our understanding of the genetic causes of epilepsy. We also thank the external providers and clinicians who referred their patients and provided phenotype data.