Article
A targeted resequencing gene panel for focal epilepsy.
Neurology - 26 Apr 2016
Hildebrand Michael S, Myers Candace T, Carvill Gemma L, Regan Brigid M, Damiano John A, Mullen Saul A, Newton Mark R, Nair Umesh, Gazina Elena V, Milligan Carol J, Reid Christopher A, Petrou Steven, Scheffer Ingrid E, Berkovic Samuel F, Mefford Heather C
Abstract excerpt
OBJECTIVES: We report development of a targeted resequencing gene panel for focal epilepsy, the most prevalent phenotypic group of the epilepsies. METHODS: The targeted resequencing gene panel was designed using molecular inversion probe (MIP) capture technology and sequenced using massively parallel Illumina sequencing. RESULTS: We demonstrated proof of principle that mutations can be detected in 4 previously...
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