Article
SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism.
Pediatric neurology - 1 Jul 2013
Sundaram Senthil K, Chugani Harry T, Tiwari Vijay N, Huq A H M M
Abstract excerpt
BACKGROUND: Genetic mutations play a crucial role in the etiology of cryptogenic infantile spasms, but the cause is still unknown in a significant proportion of patients. Whole exome sequencing technology shows great promise in identifying genetic causes of infantile spasms. METHODS: In this study whole exome sequencing was performed with 2-deoxy-2-((18)F)fluoro-d-glucose positron emission tomography scan of an...
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