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Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA Ser(UCN) mutation
Author(s) -
Schuelke Markus,
Bakker Melan,
Stoltenburg Gisela,
Sperner Jürgen,
von Moers Arpad
Publication year - 1998
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410440420
Subject(s) - mitochondrial dna , mitochondrial encephalomyopathy , mitochondrial myopathy , lactic acidosis , mitochondrial encephalomyopathies , mutation , mitochondrion , transfer rna , ataxia , epilepsia partialis continua , leigh disease , genetics , biology , epilepsy , medicine , status epilepticus , endocrinology , neuroscience , gene , rna
Epilepsia partialis continua (EPC) is a rare epileptic syndrome characterized by continuous focal seizures. We report on a 16‐year‐old girl who died of prolonged pharmacoresistant EPC in whom we identified a 7472insC mutation within the mitochondrial transfer ribonucleic acid (tRNA) Ser(UCN) . Additional symptoms included ataxia, lactic acidosis, myopathy, sensorineural hearing loss, severe headaches, and mental retardation. Quantification revealed 100% mutant mitochondrial DNA (mtDNA) in the patient, 4% in her mother, and none in her half‐sister. This highly skewed mtDNA distribution is most improbable (∼3 × 10 −30 ) if only explained by random genetic drift. Clustering of dysfunctional mitochondria and replicatory advantage of mutant mtDNA may play a role in the rapid segregation towards homoplasmy within one generation.
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