Expanding the genotype-phenotype spectrum in SCN8A-related disorders by Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A. Dean, Samuel J. Goodchild, Janette Mezeyova, Noah Gregory Shuart, J. P. Johnson, James Lee, Aspasia Michoulas, Linda L. Huh, Linlea Armstrong, Mary B. Connolly, Michelle K. Demos

Get full text

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy by Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Tanya N. Nelson, Corneliu Bolbocean, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

Get full text