A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation (Q30538580)

16 August 2017

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation (English)

1 reference

16 August 2017

1

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PubMed publication ID

24 June 2017

16

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Corinna Menzel

9

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Reinhard Ullmann

10

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Luciana Musante

2

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Niels Tommerup

11

Venkateswarlu Kanamarlapudi

Niels Tommerup

0 references

Kanamarlapudi Venkateswarlu

8

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Robert J. Harvey

Robert J Harvey

18

0 references

Leda Dalprà

12

Leda Dalprà

1 reference

16 August 2017

Cheng Fang

3

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16 August 2017

Kirsten Hoffmann

4

1 reference

16 August 2017

Celine Fuchs

5

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16 August 2017

Eloisa Carta

6

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16 August 2017

Emma Deas

7

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16 August 2017

Andreas Tzschach

13

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16 August 2017

Angelo Selicorni

14

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16 August 2017

Bernhard Lüscher

15

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16 August 2017

Kirsten Harvey

17

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16 August 2017

1 January 2009

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16 August 2017

1 reference

16 August 2017

30

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16 August 2017

1

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16 August 2017

61-68

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Impaired GABAergic transmission and altered hippocampal synaptic plasticity in collybistin-deficient mice

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Channelopathies in idiopathic epilepsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Emerging roles of phosphatidylinositol 3-monophosphate as a dynamic lipid second messenger.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

A schizophrenia-related sensorimotor deficit links alpha 3-containing GABAA receptors to a dopamine hyperfunction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Centaurin-alpha1 is an in vivo phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein for ARF6 that is involved in actin cytoskeleton organization

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Functional characterization of the new human GABA(A) receptor mutation beta3(R192H).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Clustering of inhibitory neurotransmitter receptors at developing postsynaptic sites: the membrane activation model

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

An improved PCR method for walking in uncloned genomic DNA.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

The gamma 2 subunit of GABA(A) receptors is required for maintenance of receptors at mature synapses.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Molecular and neuronal substrate for the selective attenuation of anxiety.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Decreased GABAA-receptor clustering results in enhanced anxiety and a bias for threat cues.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621145

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

26 November 2018

1 reference

12 December 2020

Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations

1 reference

12 December 2020

The crystal structure of Cdc42 in complex with collybistin II, a gephyrin-interacting guanine nucleotide exchange factor

1 reference

12 December 2020

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

1 reference

12 December 2020

A novel GABRG2 mutation associated with febrile seizures

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.20814

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

18615734

1 reference