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Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures and progressive disturbance of cerebral function. This study was to investigate a cohort of Chinese children with unexplained EIEE, infants with previous genetic diagnoses, causative brain malformations, or inborn errors of metabolism were excluded. We used targeted next-generation sequencing to identify potential pathogenic variants of 308 genes in 68 Han Chinese patients with unexplained EIEE. A filter process was performed to prioritize rare variants of potential functional significance. In all cases where parental testing was accessible, Sanger sequencing confirmed the variants and determined the parental origin. In 15% of patients ( n  = 10/68), we identified nine  de novo  pathogenic variants, and one assumed  de novo  pathogenic variant in the following genes:  CDKL5  (n = 2),  STXBP1  (n = 2),  SCN1A  (n = 3),  KCNQ2  (n = 2),  SCN8A  (n = 1), four of the variants are novel variants. In 4% patients ( n  = 3/68), we identified three likely pathogenic variants; two assumed  de novo  and one X-linked in the following genes:  SCN1A  (n = 2) and  ARX  (n = 1), two of these variants are novel. Variants were assumed  de novo  when parental testing was not available. Our findings were first reported in Han Chinese patients with unexplained EIEE, enriching the EIEE mutation spectrum bank.

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching