Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 -10p15.1 and
Kevin Jones1, Shelly K Weiss2, Berge Minassian2
1Comprehensive Epilepsy Program The Division of Neurology Department of Pediatrics McMaster Children's Hospital McMaster University 1280 Main Street West Hamilton ON L8S4K1 Canada.
Clinical Case Reports
|July 8, 2016
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.
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