Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation.

doi:10.1002/ana.410440420

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Article

Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation.

Annals of neurology - 1 Oct 1998

Schuelke M, Bakker M, Stoltenburg G, Sperner J, von Moers A

Abstract excerpt

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)). Ad...

Topics

Base Sequence
Child
Epilepsies, Partial
Fatal Outcome
Female
Humans
Magnetic Resonance Angiography
Magnetic Resonance Imaging
Mutation
Pedigree
RNA
RNA, Mitochondrial
RNA, Transfer, Amino Acyl
Status Epilepticus

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