(Q33858770)

24995870

29 July 2017

title

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life (English)

1 reference

29 July 2017

1 reference

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24995870%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Annick Toutain

16

1 reference

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11 June 2020

Anne de Saint-Martin

21

1 reference

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11 June 2020

Laurent Villard

27

1 reference

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11 June 2020

8

Delphine Héron

1 reference

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11 June 2020

29

Laurence Faivre

1 reference

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11 June 2020

Christel Thauvin-Robinet

24

object named as

Christel Thauvin-Robinet

1 reference

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11 June 2020

7

Agathe Roubertie

1 reference

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11 June 2020

25

Alice Masurel-Paulet

1 reference

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11 June 2020

1

Julien Thevenon

1 reference

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11 June 2020

23

Salima El Chehadeh

1 reference

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11 June 2020

author name string

Mathieu Milh

2

1 reference

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11 June 2020

François Feillet

3

1 reference

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11 June 2020

Judith St-Onge

4

1 reference

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11 June 2020

Yannis Duffourd

5

1 reference

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11 June 2020

Clara Jugé

6

1 reference

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11 June 2020

Cyril Mignot

9

1 reference

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11 June 2020

Emmanuel Raffo

10

1 reference

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11 June 2020

Bertrand Isidor

11

1 reference

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11 June 2020

Sandra Wahlen

12

1 reference

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11 June 2020

Nathalie Villeneuve

14

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11 June 2020

Véronique Darmency-Stamboul

15

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11 June 2020

Mathilde Lefebvre

17

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11 June 2020

Mondher Chouchane

18

1 reference

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11 June 2020

Frédéric Huet

19

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11 June 2020

Arnaud Lafon

20

1 reference

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11 June 2020

Gaetan Lesca

22

1 reference

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11 June 2020

Sylvie Odent

26

1 reference

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11 June 2020

Christophe Philippe

28

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11 June 2020

Jean-Baptiste Rivière

30

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11 June 2020

language of work or name

English

0 references

publication date

1 July 2014

1 reference

24995870

American Journal of Human Genetics

29 July 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24995870%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

95

1 reference

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11 June 2020

issue

1

1 reference

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11 June 2020

page(s)

113-120

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24995870%20AND%20SRC:MED&resulttype=core&format=json

A general framework for estimating the relative pathogenicity of human genetic variants

11 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Sodium-coupled dicarboxylate and citrate transporters from the SLC13 family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

De novo mutations in epileptic encephalopathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Mortality risks in new-onset childhood epilepsy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

SLC13 family of Na⁺-coupled di- and tri-carboxylate/sulfate transporters

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Genetics of the epilepsies: where are we and where are we going?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Structure and mechanism of a bacterial sodium-dependent dicarboxylate transporter

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Epileptic encephalopathies (including severe epilepsy syndromes).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Energy depletion in seizures: anaplerosis as a strategy for future therapies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Triheptanoin--a medium chain triglyceride with odd chain fatty acids: a new anaplerotic anticonvulsant treatment?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Deletion of the mammalian INDY homolog mimics aspects of dietary restriction and protects against adiposity and insulin resistance in mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

A method and server for predicting damaging missense mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Exome sequencing identifies the cause of a mendelian disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Functional features and genomic organization of mouse NaCT, a sodium-coupled transporter for tricarboxylic acid cycle intermediates

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

5 July 2018

Epileptic encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Conformationally sensitive residues in transmembrane domain 9 of the Na+/dicarboxylate co-transporter

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Amino acid difference formula to help explain protein evolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Citrate synthase activity increases in homogenates of the cerebral cortex from rats treated with the convulsant 3-mercaptopropionic acid

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Acidic residues involved in cation and substrate interactions in the Na+/dicarboxylate cotransporter, NaDC-1.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4085634

Determinants of substrate and cation affinities in the Na+/dicarboxylate cotransporter

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24995870

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.06.006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24995870%20AND%20SRC:MED&resulttype=core&format=json

release_5bbut3u7pvfbxkpkuzeohlvvcu

11 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5bbut3u7pvfbxkpkuzeohlvvcu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24995870%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

24995870

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24995870%20AND%20SRC:MED&resulttype=core&format=json