(Q24604206)

GOA release 2020-03-11

antiporter activity

1 reference

GOA release 2020-03-11

Thomas J Jentsch

11

Thomas J

Jentsch

1 reference

7 November 2023

3

Tatiana M Karafet

Tatiana M

Karafet

1 reference

7 November 2023

Krishna R Veeramah

1

Krishna R

Veeramah

1 reference

7 November 2023

Laurel Johnstone

2

Laurel

Johnstone

1 reference

7 November 2023

Daniel Wolf

4

Daniel

Wolf

1 reference

7 November 2023

Ryan Sprissler

5

Ryan

Sprissler

1 reference

7 November 2023

John Salogiannis

6

John

Salogiannis

1 reference

7 November 2023

Asa Barth-Maron

7

Asa

Barth-Maron

1 reference

7 November 2023

Michael E Greenberg

8

Michael E

Greenberg

1 reference

7 November 2023

Till Stuhlmann

9

Till

Stuhlmann

1 reference

7 November 2023

Stefanie Weinert

10

Stefanie

Weinert

1 reference

7 November 2023

Marjorie Pazzi

12

Marjorie

Pazzi

1 reference

7 November 2023

Linda L Restifo

13

Linda L

Restifo

1 reference

7 November 2023

Dinesh Talwar

14

Dinesh

Talwar

1 reference

7 November 2023

Robert P Erickson

15

Robert P

Erickson

1 reference

7 November 2023

Michael F Hammer

16

Michael F

Hammer

1 reference

Rate of de novo mutations and the importance of father's age to disease risk

7 November 2023

language of work or name

English

0 references

publication date

July 2013

0 references

published in

Epilepsia

0 references

volume

54

0 references

issue

7

0 references

page(s)

1270-81

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

High affinity neurexin binding to cell adhesion G-protein-coupled receptor CIRL1/latrophilin-1 produces an intercellular adhesion complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

The ubiquitin-specific protease USP34 regulates axin stability and Wnt/β-catenin signaling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

A common molecular basis for three inherited kidney stone diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

A method and server for predicting damaging missense mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

The human ClC-4 protein, a member of the CLC chloride channel/transporter family, is localized to the endoplasmic reticulum by its N-terminus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Eph-dependent tyrosine phosphorylation of ephexin1 modulates growth cone collapse

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Patterns and rates of exonic de novo mutations in autism spectrum disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Transgenic rescue of ataxia mice with neuronal-specific expression of ubiquitin-specific protease 14

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

SCN1A mutations and epilepsy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

The calcium-independent receptor for alpha-latrotoxin from human and rodent brains interacts with members of the ProSAP/SSTRIP/Shank family of multidomain proteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

A framework for variation discovery and genotyping using next-generation DNA sequencing data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Fast and accurate long-read alignment with Burrows-Wheeler transform

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Spatio-temporal transcriptome of the human brain

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Exome sequencing as a tool for Mendelian disease gene discovery

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

MutationTaster evaluates disease-causing potential of sequence alterations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

A synaptic trek to autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Evolutionary diagnosis method for variants in personal exomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

THAP1 mutations and dystonia phenotypes: genotype phenotype correlations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Epi4K: gene discovery in 4,000 genomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Differential effects of UCHL1 modulation on alpha-synuclein in PD-like models of alpha-synucleinopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Exome sequencing in Parkinson's disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

The latrophilins, "split-personality" receptors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Epilepsy and autism: neurodevelopmental perspective

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Sorting Motifs of the Endosomal/Lysosomal CLC Chloride Transporters

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Epilepsy caused by CDKL5 mutations.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Angelman syndrome: current understanding and research prospects.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

The epileptic encephalopathies of infancy and childhood.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Calcium/calmodulin-dependent protein kinase II and potassium channel subunit eag similarly affect plasticity in Drosophila.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Cloning of components of a novel subthreshold-activating K(+) channel with a unique pattern of expression in the cerebral cortex.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Ether-à-go-go encodes a voltage-gated channel permeable to K+ and Ca2+ and modulated by cAMP.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Epilepsy and autism spectrum disorders: are there common developmental mechanisms?

30 May 2018

1 reference

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

21 January 2018

1 reference

The skeletal muscle chloride channel in dominant and recessive human myotonia

21 January 2018

1 reference

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

21 January 2018

1 reference

Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel

21 January 2018

1 reference

A de novo paradigm for mental retardation.

21 January 2018

1 reference

Xenopus RCOR2 (REST corepressor 2) interacts with ZMYND8, which is involved in neural differentiation.

21 January 2018

1 reference

Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3700577

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

28 November 2018

1 reference

12 December 2020

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

1 reference

12 December 2020

Mortality in childhood-onset epilepsy

1 reference

12 December 2020

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome

1 reference

12 December 2020

Ion channels and epilepsy

1 reference

12 December 2020

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

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1111/EPI.12201

1 reference

1 reference

1 reference

1 reference