The WES of Patient 8 revealed the presence of a de novo frameshift mutation in the gene SEMA6B, predicted to cause a premature truncated protein (c.1991delG; p.Gly664fsX21; CADD PHRED score: 16.8), and de novo heterozygous mutations in SEMA6b is indicated to cause progressive myoclonic epilepsy-11 [59]. This evidence concerns the gene SEMA6B and epilepsy, progressive myoclonic, 11.