Adult-onset combined oxidative phosphorylation deficiency type14 manifests as epileptic status: a new phenotype and literature review
Combined oxidative phosphorylation deficiency (COXPD) is a severe disorder with early onset and autosomal recessive inheritance, and has been divided into 51 types. COXPD14 is caused by a mutation in the FARS2 gene. We report an autosomal recessive COXPD14 in adults with status epilepticus as the only manifestation with a good prognosis, which is different from that in neonatal or infant patients reported in the literature.