(Q35072646)

6 August 2017

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy (English)

1 reference

6 August 2017

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Flavia Palombo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Alessandra Maresca

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Andrea Angius

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Andrea Angius

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Francesco Cucca

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Rocco Liguori

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Maria Lucia Valentino

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Marco Seri

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Valerio Carelli

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1

Tommaso Pippucci

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

7

Laura Crisponi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

language of work or name

English

0 references

publication date

16 December 2013

1 reference

6 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

e82154

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

12 June 2020

copyright license

start time

16 December 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Improved exome prioritization of disease genes through cross-species phenotype comparison

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

PhenoDigm: analyzing curated annotations to associate animal models with human diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

ENCODE Project Writes Eulogy for Junk DNA

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

NIH Image to ImageJ: 25 years of image analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

α2δ expression sets presynaptic calcium channel abundance and release probability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Molecular bases and clinical spectrum of early infantile epileptic encephalopathies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Towards a knowledge-based Human Protein Atlas

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

MutationTaster evaluates disease-causing potential of sequence alterations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Neurological channelopathies: new insights into disease mechanisms and ion channel function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

A method and server for predicting damaging missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

The Sequence Alignment/Map format and SAMtools

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Voltage-gated calcium channels in genetic diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Distribution and intensity of constraint in mammalian genomic sequence

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Protocadherin Celsr3 is crucial in axonal tract development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Tissue-specific expression and gabapentin-binding properties of calcium channel alpha2delta subunit subtypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Initial sequencing and analysis of the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Functional properties of a new voltage-dependent calcium channel alpha(2)delta auxiliary subunit gene (CACNA2D2)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Subunit interaction sites in voltage-dependent Ca2+ channels: role in channel function.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864908

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

8 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082154

The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha 2 delta-2 protein with abnormal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082154

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082154

EX-HOM (EXome HOMozygosity): a proof of principle

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082154

10.1371/JOURNAL.PONE.0082154

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

0 references

release_gksaibjppbbirguchkvrpyblpi

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gksaibjppbbirguchkvrpyblpi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24358150%20AND%20SRC:MED&resulttype=core&format=json