ENAapplication/xmlftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR269/099/SRR26937199/SRR26937199_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR269/099/SRR26937199/SRR26937199_2.fastq.gzprimaryOK200GenomicsThe First Medical Center of Chinese PLA General Hospitalhttps://www.ebi.ac.uk/ena/browser/view/PRJNA1044458Combined 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.ENAepilepsy, Generalized seizure (finding), Epileptic seizures, Other forms of epilepsy (disorder), adult stage, [X]Other epilepsy (disorder), Epilectic attack, Generalized fit, Seizure disorder (disorder), with intractable epilepsy, Epilepsy (disorder), Epileptic fits, Seizure disorder, Other forms of epilepsy, Literatures, unspecified, Epileptic disorder, Review Literature, EPILEP NEC W/O INTR EPIL, NOS, EPILEPSY NOS W INTR EPIL, Epileptic Seizure, Epileptic attack, Epileptic seizure (finding), seizure disorder, Adults, adult, EP - Epilepsy, [X]Other epilepsy, EPILEPSY NEC W INTR EPIL, Other forms of epilepsy NOS, Other forms of epilepsy and recurrent seizures, Epilepsy, Review, Academic, Epileptic seizure, Age of onset, Age symptoms begin, Epilepsy NOS (disorder), Epilepsy and recurrent seizures, EPILEP NOS W/O INTR EPIL, Epileptic fit, Phenotypes, without mention of intractable epilepsy, Epilepsy NOS, Epileptic, Generalized seizure, Generalized convulsion, Generalised seizure, Generalised convulsion, Other forms of epilepsy NOS (disorder), Review of Reported Cases, EF - Epileptic fit, Multicase., Generalised fit, Epileptic convulsionsfalseAdult-onset combined oxidative phosphorylation deficiency type14 manifests as epileptic status: a new phenotype and literature review2023-11-252023-11-25PRJNA1044458