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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies
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1 reference
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Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
title
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
author
Karen Oliver
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
Samuel Berkovic
series ordinal
4
object named as
Samuel F Berkovic
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
author name string
Caitlin A Bennett
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
Slavé Petrovski
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
publication date
6 July 2017
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
published in
Neurology. Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
volume
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
issue
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
page(s)
e163
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
cites work
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5503456
retrieved
5 July 2018
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5503456
retrieved
5 July 2018
Analysis of protein-coding genetic variation in 60,706 humans
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5503456
retrieved
5 July 2018
Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5503456
retrieved
5 July 2018
Quantifying prion disease penetrance using large population control cohorts
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5503456
retrieved
5 July 2018
A roadmap for precision medicine in the epilepsies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5503456
retrieved
5 July 2018
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5503456
retrieved
5 July 2018
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5503456
retrieved
5 July 2018
Genetic testing in epilepsy: what should you be doing?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5503456
retrieved
5 July 2018
SRPX2 mutations in disorders of language cortex and cognition
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5503456
retrieved
5 July 2018
Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5503456
retrieved
29 October 2018
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5503456
retrieved
29 October 2018
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/28717674
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Commentary: Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/28717674
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/28717674
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1212/NXG.0000000000000163
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
Fatcat ID
release_ld4kkfb3n5e5zjxl4ldxhbdzru
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/ld4kkfb3n5e5zjxl4ldxhbdzru
retrieved
24 November 2022
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mapped directly with Wikidata item
PMC publication ID
5503456
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
PubMed publication ID
28717674
1 reference
stated in
Europe PubMed Central
PMC publication ID
5503456
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717674%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 March 2020
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