The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function

por Laura B. Jones, Colin H. Peters, Richard E. Rosch, Richard E. Rosch, Maxine Owers, Elaine Hughes, Elaine Hughes, Deb K. Pal, Deb K. Pal, Peter C. Ruben
Publicado 2021

Incorporating epilepsy genetics into clinical practice: a 360°evaluation

por Stephanie Oates, Shan Tang, Richard Rosch, Rosalie Lear, Elaine F. Hughes, Ruth E. Williams, Line H. G. Larsen, Qin Hao, Hans Atli Dahl, Rikke S. Møller, Deb K. Pal
Publicado 2018

The genetics of reading disability in an often excluded sample: novel loci suggested for reading disability in Rolandic epilepsy.

por Lisa J Strug, Laura Addis, Theodore Chiang, Zeynep Baskurt, Weili Li, Tara Clarke, Huntley Hardison, Steven L Kugler, David E Mandelbaum, Edward J Novotny, Steven M Wolf, Deb K Pal
Publicado 2012

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

por Maria Tropeano, Joo Wook Ahn, Richard J B Dobson, Gerome Breen, James Rucker, Abhishek Dixit, Deb K Pal, Peter McGuffin, Anne Farmer, Peter S White, Joris Andrieux, Evangelos Vassos, Caroline Mackie Ogilvie, Sarah Curran, David A Collier
Publicado 2013