4 CNVs spanned gene involved in channel (GRIN2A), 8 CNVs spanned genes involved in synaptic connection (CNKSR2, SHANK3 and DLG2), and 14 CNVs spanned genes involved in cell adhesion (CDH13, CTNNA3, DIAPH3, CDH9, CDH6, KIF26B, CDH4, CNTNAP2, SGCZ, HIPK3, CSTF3 and CNTN6). 68 of the reported genetic etiologies including monogenic mutations and CNVs were detected in patients with ESESS/CSWSS/epilepsy-aphasia spectrum solely. The gene discussed is SHANK3; the disease is epilepsy.