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

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13

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Annick Toutain

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Anne de Saint-Martin

21

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Laurent Villard

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Delphine Héron

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29

Laurence Faivre

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Christel Thauvin-Robinet

24

object named as

Christel Thauvin-Robinet

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Agathe Roubertie

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Alice Masurel-Paulet

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Julien Thevenon

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Salima El Chehadeh

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22

Gaetan Lesca

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Judith St-Onge

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Yannis Duffourd

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author name string

Mathieu Milh

2

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François Feillet

3

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Clara Jugé

6

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Cyril Mignot

9

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Emmanuel Raffo

10

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Bertrand Isidor

11

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Sandra Wahlen

12

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Nathalie Villeneuve

14

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Véronique Darmency-Stamboul

15

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Mathilde Lefebvre

17

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Mondher Chouchane

18

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Frédéric Huet

19

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Arnaud Lafon

20

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Sylvie Odent

26

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Christophe Philippe

28

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Jean-Baptiste Rivière

30

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11 June 2020

publication date

1 July 2014

1 reference

24995870

American Journal of Human Genetics

29 July 2017

language of work or name

English

0 references

published in

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volume

95

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11 June 2020

issue

1

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11 June 2020

page(s)

113-120

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

11 June 2020

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1 reference

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5 July 2018

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

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5 July 2018

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

5 July 2018

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5 July 2018

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

5 July 2018

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

5 July 2018

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

5 July 2018

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5 July 2018

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5 July 2018

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

5 July 2018

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5 July 2018

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

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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29 October 2018

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29 October 2018

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29 October 2018

1 reference

PubMed

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

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Identifiers

DOI

10.1016/J.AJHG.2014.06.006

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release_5bbut3u7pvfbxkpkuzeohlvvcu

11 June 2020

Fatcat ID

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24 November 2022

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24995870

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