Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis: A case report

Oraporn Sitburana; Suchart Phudhichareonrat; Rungnapa Supavilai; Rawiphan Witoonpanich; Patcharee Lertrit

Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis: A case report

Oraporn Sitburana
, Suchart Phudhichareonrat
, Rungnapa Supavilai
, Rawiphan Witoonpanich
, Patcharee Lertrit

Department of Biochemistry

Ramathibodi Hospital
Prasart Neurological Institute
Siriraj Hospital

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1051-1055
Number of pages	5
Journal	Journal of the Medical Association of Thailand
Volume	84
Issue number	7
Publication status	Published - Jul 2001

Keywords

Ataxia
Myoclonic Epilepsy with Ragged-Red Fibers
Seizures

Cite this

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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 tRNAlys 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.",

keywords = "Ataxia, Myoclonic Epilepsy with Ragged-Red Fibers, Seizures",

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T2 - A case report

AU - Sitburana, Oraporn

AU - Phudhichareonrat, Suchart

AU - Supavilai, Rungnapa

AU - Witoonpanich, Rawiphan

AU - Lertrit, Patcharee

PY - 2001/7

Y1 - 2001/7

N2 - 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 tRNAlys 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.

AB - 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 tRNAlys 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.

KW - Ataxia

KW - Myoclonic Epilepsy with Ragged-Red Fibers

KW - Seizures

UR - https://www.scopus.com/pages/publications/11244346011

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AN - SCOPUS:11244346011

SN - 0125-2208

VL - 84

SP - 1051

EP - 1055

JO - Journal of the Medical Association of Thailand

JF - Journal of the Medical Association of Thailand

IS - 7

ER -

Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis: A case report

Abstract

Keywords

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