Volume 1, Number 3, Year 2012
Special Issue: Genetic Testing in Clinical Practice
Guest Editor: Brenda E. Porter
Gust Editorial
Brenda E. Porter
Foreword
Review Articles
Beth Rosen Sheidley and Annapurna Poduri
Genetics in clinical epilepsy: Issues in genetic testing and counseling
Courtney J. Wusthoff
Benign familial neonatal epilepsy
Heather E. Olson and Annapurna Poduri
CDKL5 mutations in early onset epilepsy: Case report and review of the literature
Johanna A. Jähn and Ingo Helbig
Structural genomic variants in pediatric seizure disorders
Alex R. Paciorkowski and Brenda E. Porter
MEF2C haploinsufficiency syndrome: A severe neurodevelopmental disorder with variable epilepsy
Nilika S. Singhal and Joseph E. Sullivan
PCDH19-related epilepsy
Letter to the Editor
Gladys Ho, Wendy Gold, Sarah L. Williamson, and John Christodoulou
Pathogenicity of C-terminal mutations in CDKL5