Journal of Pediatric Epilepsy 2012_03-_Genetic_Testing_in_Clinical_Practice.html Ocak 27, 2025’' te gönderildi osman tarafından Journal of Pediatric Epilepsy Journal of Pediatric Epilepsy Issue 03 · Volume 01 · September 2012 DOI: 10.1055/s-005-29708 Genetic Testing in Clinical Practice Foreword 133 Porter, Brenda E.: Foreword Full Text PDF (30 kb) Review Article 135 Sheidley, Beth Rosen; Poduri, Annapurna: Genetics in clinical epilepsy: Issues in genetic testing and counseling Full Text PDF (84 kb) 143 Wusthoff, Courtney J.: Benign familial neonatal epilepsy Full Text PDF (619 kb) 151 Olson, Heather E.; Poduri, Annapurna: CDKL5 mutations in early onset epilepsy: Case report and review of the literature Full Text PDF (86 kb) 161 Jähn, Johanna A.; Helbig, Ingo: Structural genomic variants in pediatric seizure disorders Full Text PDF (371 kb) 171 Paciorkowski, Alex R.; Porter, Brenda E.: MEF2C haploinsufficiency syndrome: A severe neurodevelopmental disorder with variable epilepsy Full Text PDF (698 kb) 179 Singhal, Nilika S.; Sullivan, Joseph E.: PCDH19 -related epilepsy Full Text PDF (1638 kb) Letter to the Editor 185 Ho, Gladys; Gold, Wendy; Williamson, Sarah L.; Christodoulou, John: Pathogenicity of C-terminal mutations in CDKL5 Full Text PDF (37 kb) osman 2014_04-_Inherited_Metabolic_Disorders_Presenting_with_….html 2016_02-_Oxidative_Stress_Effects_in_Neonatal_Diseases.html