(Q24530709)

4 July 2017

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Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy (English)

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4 July 2017

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1 reference

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2

Eftihia Cayanis

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4 July 2017

David A Greenberg

1

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4 July 2017

Lisa Strug

3

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4 July 2017

Sudhir Marathe

4

1 reference

4 July 2017

Martina Durner

5

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4 July 2017

Deb K Pal

6

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4 July 2017

Gabriele B Alvin

7

1 reference

4 July 2017

Irene Klotz

8

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4 July 2017

Elisa Dicker

9

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4 July 2017

Shlomo Shinnar

10

1 reference

4 July 2017

Edward B Bromfield

11

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4 July 2017

Stanley Resor

12

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4 July 2017

Jeffrey Cohen

13

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4 July 2017

Solomon L Moshe

14

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4 July 2017

Cynthia Harden

15

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4 July 2017

Harriet Kang

16

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4 July 2017

language of work or name

English

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publication date

5 November 2004

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American Journal of Human Genetics

4 July 2017

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4 July 2017

76

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4 July 2017

139-146

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4 July 2017

1

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BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Selective recognition of acetylated histones by bromodomain proteins visualized in living cells

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Pyruvate carboxylation in neurons

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Transmission/disequilibrium tests for extended marker haplotypes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Epidemiology and genetics of epilepsy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Using lod-score differences to determine mode of inheritance: a simple, robust method even in the presence of heterogeneity and reduced penetrance

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Evidence for multiple gene loci in the expression of the common generalized epilepsies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Determining trait locus position from multipoint analysis: accuracy and power of three different statistics.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196416

Neuronal pyruvate carboxylation supports formation of transmitter glutamate

29 November 2018

1 reference

12 December 2020

Mitochondrial malic enzyme activity is much higher in mitochondria from cortical synaptic terminals compared with mitochondria from primary cultures of cortical neurons or cerebellar granule cells

1 reference

12 December 2020

GOLD--graphical overview of linkage disequilibrium

1 reference

12 December 2020

Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type

1 reference

12 December 2020

Segregation analysis of juvenile myoclonic epilepsy

1 reference

12 December 2020

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6

1 reference

12 December 2020

The genetics of idiopathic generalized epilepsies of adolescent onset: differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal

1 reference

12 December 2020

GABAergic modulation of complex spike activity by the cerebellar nucleoolivary pathway in rat

1 reference

12 December 2020

Identifiers

DOI

10.1086/426735

1 reference

4 July 2017

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4 July 2017

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