(Q30981903)

28 June 2017

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia (English)

1 reference

Solute carrier family 13 member 5

28 June 2017

1 reference

GOA release 2020-03-11

citrate transport

1 reference

GOA release 2020-03-11

author

Peter De Jonghe

27

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Vincent Timmerman

21

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Nina Barisic

11

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Bob Asselbergh

object named as

Bob Asselbergh

4

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Patrick May

object named as

Patrick May

8

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Peter Nürnberg

19

object named as

Peter Nürnberg

1 reference

28 June 2017

20

Rudi Balling

1 reference

28 June 2017

3

Sarah Weckhuysen

1 reference

28 June 2017

14

Dennis Lal

1 reference

28 June 2017

15

Holger Thiele

1 reference

28 June 2017

Katia Hardies

1

1 reference

28 June 2017

Carolien G F de Kovel

2

1 reference

28 June 2017

Thomas Geuens

5

1 reference

28 June 2017

Tine Deconinck

6

1 reference

28 June 2017

Abdelkrim Azmi

7

1 reference

28 June 2017

Eva Brilstra

9

1 reference

28 June 2017

Felicitas Becker

10

1 reference

28 June 2017

Dana Craiu

12

1 reference

28 June 2017

Kees P J Braun

13

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28 June 2017

Julian Schubert

16

1 reference

28 June 2017

Yvonne Weber

17

1 reference

28 June 2017

Ruben van 't Slot

18

1 reference

28 June 2017

Holger Lerche

22

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28 June 2017

Stuart Maudsley

23

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28 June 2017

Ingo Helbig

24

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28 June 2017

Arvid Suls

25

1 reference

28 June 2017

Bobby P C Koeleman

26

1 reference

28 June 2017

autosomal recessive working group of the EuroEPINOMICS RES Consortium

28

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28 June 2017

language of work or name

English

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publication date

17 September 2015

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28 June 2017

1 reference

28 June 2017

138

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28 June 2017

Pt 11

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28 June 2017

3238-3250

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De novo mutations in epileptic encephalopathies

28 June 2017

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

The expanding phenotype of GLUT1-deficiency syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Ion channels, channelopathies, and tooth formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Structural and functional characteristics of two sodium-coupled dicarboxylate transporters (ceNaDC1 and ceNaDC2) from Caenorhabditis elegans and their relevance to life span

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

The effects of the ketogenic diet on behavior and cognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Astrocytic control of glutamatergic activity: astrocytes as stars of the show

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Improved structure, function and compatibility for CellProfiler: modular high-throughput image analysis software

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Protein structure prediction on the Web: a case study using the Phyre server

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Triheptanoin reduces seizure susceptibility in a syndrome-specific mouse model of generalized epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Epidemiology of epilepsy in childhood: a cohort of 440 consecutive patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Clustal W and Clustal X version 2.0

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Structure and mechanism of a bacterial sodium-dependent dicarboxylate transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Rare copy number variants are an important cause of epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Sodium-coupled dicarboxylate and citrate transporters from the SLC13 family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Extended life-span conferred by cotransporter gene mutations in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Trafficking between glia and neurons of TCA cycle intermediates and related metabolites.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

A graphical interface for the FoldX forcefield

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Functional characterization of Na+ -coupled citrate transporter NaC2/NaCT expressed in primary cultures of neurons from mouse cerebral cortex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Epilepsy: old syndromes, new genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Citrate modulates the regulation by Zn2+ of N-methyl-D-aspartate receptor-mediated channel current and neurotransmitter release

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Anticonvulsant effects of a triheptanoin diet in two mouse chronic seizure models

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Functional and molecular identification of sodium-coupled dicarboxylate transporters in rat primary cultured cerebrocortical astrocytes and neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

An efficient one-step site-directed and site-saturation mutagenesis protocol

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV263

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWV263

1 reference

28 June 2017

1 reference