title: Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 -10p15.1 and 6q22.31 duplication.
abstract: Patients presenting with infantile spasms, dysmorphic features, and periventricular nodular heterotopia may benefit from genetic copy number variation microarray, or whole-exome sequencing to identify candidate genes. This will allow personalized diagnosis and prognostication and the eventual understanding of single and combined gene functions in brain health and disease.
authors.affiliation: Comprehensive Epilepsy Program The Division of Neurology Department of Pediatrics McMaster Children's Hospital McMaster University 1280 Main Street West Hamilton ON L8S4K1 Canada.
authors.forename: Kevin
authors.initials: K
authors.lastname: Jones
authors.affiliation: The Division of Neurology Department of Pediatrics The Hospital for Sick Children University of Toronto 555 University Ave Toronto ON M5G1X8 Canada.
authors.forename: Shelly K
authors.initials: SK
authors.lastname: Weiss
authors.affiliation: The Division of Neurology Department of Pediatrics The Hospital for Sick Children University of Toronto 555 University Ave Toronto ON M5G1X8 Canada.
authors.forename: Berge
authors.initials: B
authors.lastname: Minassian
keywords: Infantile spasms; periventricular nodular heterotopia; personalized medicine