(Q34997170)

5 August 2017

title

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders (English)

1 reference

5 August 2017

1 reference

6

Robert K Naviaux

1 reference

5 August 2017

Russell P Saneto

1

1 reference

5 August 2017

Inn-Chi Lee

2

1 reference

5 August 2017

Mary Kay Koenig

3

1 reference

5 August 2017

Xinhua Bao

4

1 reference

5 August 2017

Shao-Wen Weng

5

1 reference

5 August 2017

Lee-Jun C Wong

7

1 reference

5 August 2017

publication date

6 February 2010

1 reference

Seizure-European Journal of Epilepsy

5 August 2017

published in

1 reference

5 August 2017

volume

19

1 reference

5 August 2017

issue

3

1 reference

5 August 2017

page(s)

140-146

1 reference

Neuroimaging of mitochondrial disease.

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

The in-depth evaluation of suspected mitochondrial disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Mitochondrial disease: a practical approach for primary care physicians.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

The EM structure of human DNA polymerase gamma reveals a localized contact between the catalytic and accessory subunits

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

The SANAD study of effectiveness of valproate, lamotrigine, or topiramate for generalised and unclassifiable epilepsy: an unblinded randomised controlled trial

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Efficacy and tolerability of the new antiepileptic drugs I: treatment of new onset epilepsy: report of the Therapeutics and Technology Assessment Subcommittee and Quality Standards Subcommittee of the American Academy of Neurology and the [...]

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Treatment of partial seizures in childhood : an overview.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Crystal structure and deletion analysis show that the accessory subunit of mammalian DNA polymerase gamma, Pol gamma B, functions as a homodimer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Progressive neuronal degeneration of childhood with liver disease ("Alpers' disease"): characteristic neurophysiological features

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Valproate monotherapy in 30 patients with partial seizures

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Valproic acid hepatic fatalities: a retrospective review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

EEG findings in children and adolescents with mitochondrial encephalomyopathies: a study of 25 cases.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Infantile Diffuse Cerebral Degeneration With Hepatic Cirrhosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1).

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Alpers syndrome with prominent white matter changes

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099441

[Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases]

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20138553

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20138553

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Juvenile Alpers disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20138553

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.SEIZURE.2010.01.002

1 reference

5 August 2017

1 reference

5 August 2017

1 reference