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

Title
De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 90, Issue 3, Pages 502-510
Publisher
Elsevier BV
Online
2012-02-24
DOI
10.1016/j.ajhg.2012.01.006

Ask authors/readers for more resources

Publish scientific posters with Peeref

Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.

Learn More

Create your own webinar

Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.

Create Now