(Q48652346)

English

Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation

scientific article published on 17 July 2014

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/25038129

Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/25038129

mitochondrial DNA

0 references

mitochondrial encephalomyopathy

1 reference

based on heuristic

inferred from title

lactic acidosis

1 reference

based on heuristic

inferred from title

Phillip L Pearl

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25038129%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Scott T Demarest

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25038129%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Matthew T Whitehead

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25038129%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sinan Turnacioglu

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25038129%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Andrea L Gropman

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25038129%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

publication date

17 July 2014

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/25038129

Journal of Child Neurology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25038129%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

29

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25038129%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25038129%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1249-1256

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25038129%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioral disturbances: case analysis with literature review

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Molecular pathology of MELAS and L-arginine effects.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

"Erratic" complex partial status epilepticus as a presenting feature of MELAS.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

MELAS with A3243G mutation presenting with occipital status epilepticus

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Valproic acid aggravates epilepsy due to MELAS in a patient with an A3243G mutation of mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Successful treatment with succinate in a patient with MELAS.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Epileptic phenotypes associated with mitochondrial disorders.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Impaired mitochondrial energy production: the basis of pharmacoresistance in epilepsy.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Mitochondrial disease and epilepsy.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Effects of L-arginine on the acute phase of strokes in three patients with MELAS.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

L-arginine improves the symptoms of strokelike episodes in MELAS.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Digenic mutations in severe myoclonic epilepsy of infancy

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

The psychiatric presentation of mitochondrial disorders in adults

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Brief Communication Complex Partial Status Epilepticus in Late-Onset MELAS

1 reference

https://api.crossref.org/works/10.1177%2F0883073814538511

21 January 2018

Identifiers

10.1177/0883073814538511

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25038129%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25038129%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

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