De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy
Samuel F Berkovic, Tracy Dixon-Salazar, David B Goldstein, Erin L Heinzen, Brandon L Laughlin, Daniel H Lowenstein, Laura Lubbers, Julie Milder, Randall Stewart, Vicky Whittemore, Kaitlin Angione, Carl W Bazil, Louise Bier, Judith Bluvstein, Elise Brimble, Colleen Campbell, Chelsea Chambers, Hyunmi Choi, Maria Roberta Cilio, Michael Ciliberto Show all
Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2018
Awarded by Citizens United for Research in Epilepsy
Awarded by National Institute for Neurological Disorders and Stroke
The authors acknowledge Citizens United for Research in Epilepsy (339143) and the National Institute for Neurological Disorders and Stroke (U01-NS077303-04S1) for providing the funding to make this research possible. We thank the patients and families enrolled in the EGI for their participation in this research and dedication to furthering our understanding of the genetic causes of epilepsy. We also thank the external providers and clinicians who referred their patients and provided phenotype data.