Coma is a state of prolonged
unconsciousness. Some coma cases result from inherited disorders such as fatty-acid β-oxidation disorder, acute intermittent porphyria (due to mutations in genes
CPT I, CPTII and
ACADM), urea cycle defects (due to mutation in
OTC gene), organic acidurias, mitochondrial diseases and familial hemiplegic migraine (due to mutations in
CACNA1A, ATP1A2 and
SCN1A). The evaluation of familial cases of coma or sporadic coma can be performed using next generation sequencing (NGS), a
high-throughput sequencing technique that can sequence an entire genome in a single reaction. This technique has been widely applied in the genetic diagnosis of diseases. In this review, we describe some genes associated with coma or recurrent coma and discuss the role of NGS in detection of these genes.