Abstract 1865 Table 1
Chromosome\ Gene Variation Effect Brain regional specificity Clinical Variant Pathogenic status
15\HERC2 Splice Cerebellum Pathogenic
2\FARP2 Splice Cerebellum Pathogenic
4\GRIA2 Splice Cerebral cortex and basal ganglia Pathogenic
7\SMURF1 Splice Cerebral cortex, Pons, Medulla Pathogenic
16\TUBB3 Splice Hypothalamus , Pons, Medulla Pathogenic