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DOI: 10.1055/s-00029025

Journal of Pediatric Epilepsy

Ausgabe 03 · Volume 01 · September 2012 DOI: 10.1055/s-005-29708 Genetic Testing in Clinical Practice

Foreword

133

Porter, Brenda E.: Foreword

135

Sheidley, Beth Rosen; Poduri, Annapurna: Genetics in clinical epilepsy: Issues in genetic testing and counseling

143

Wusthoff, Courtney J.: Benign familial neonatal epilepsy

151

Olson, Heather E.; Poduri, Annapurna: CDKL5 mutations in early onset epilepsy: Case report and review of the literature

161

Jähn, Johanna A.; Helbig, Ingo: Structural genomic variants in pediatric seizure disorders

171

Paciorkowski, Alex R.; Porter, Brenda E.: MEF2C haploinsufficiency syndrome: A severe neurodevelopmental disorder with variable epilepsy

179

Singhal, Nilika S.; Sullivan, Joseph E.: PCDH19-related epilepsy

185

Ho, Gladys; Gold, Wendy; Williamson, Sarah L.; Christodoulou, John: Pathogenicity of C-terminal mutations in CDKL5