Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis
Keywords: SMEI; severe myoclonic epilepsy of infancy; GTC; generalized tonic-clonic; CXR; chest X-ray; DS; Dravet syndrome; CNV; copy number variation; PKC; protein kinase C; SCN1A gene; Splicing variants; Targeted next generation sequencing; Myoclonic epilepsy of