Случай сочетания двух редких неврологических болезней, выявленных панельным экзомным секвенированием

In a 12-year-old female with early-onset epilepsy (remission), development delay, hyperkinesias and moderate lactic acidosis two independent rare disorders with overlapping phenotypes were detected by panel exome sequencing and confirmed by Sanger sequencing: autosomal dominant infantile epileptic encephalopathy type 42 (previously reported CACNA1A mutation p.Ala713Thr de novo ) and autosomal recessive mitochondrial respiratory chain complex I deficiency (compound heterozygosity for previously reported NDUFB3 mutations p.Trp22Arg and p.Cly70* in NDUFB3 gene). Clinical heterogeneity of NDUFB3 -related disease is discussed.