title: Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis: a case report.
abstract: A 19-year-old Thai woman presented with progressive ataxia and generalized tonic-clonic seizures. Later on, she developed status epilepticus. Blood was tested by molecular DNA analysis which showed A8344G mitochondrial DNA mutation associated with myoclonic epilepsy with ragged-red fibers (MERRF). We confirmed this finding in other members of this family. This is an interesting case report in Thailand of MERRF identified to have A-->G transition mutation at nucleotide 8344 of mitochondrial tRNA(lys) gene without ragged-red fibers from histopathologic studies of muscle. Molecular genetic analysis in suspicious cases of mitochondrial disorders is necessary for proper management and genetic counseling.
authors.affiliation: Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: O
authors.initials: O
authors.lastname: Sitburana
authors.forename: R
authors.initials: R
authors.lastname: Witoonpanich
authors.forename: S
authors.initials: S
authors.lastname: Phudhichareonrat
authors.forename: P
authors.initials: P
authors.lastname: Lertrit
authors.forename: R
authors.initials: R
authors.lastname: Supavilai
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000032:analysis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017243:MERRF Syndrome / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial