PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy (Q34492529)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

main subject

frontal lobe epilepsy

1 reference

based on heuristic

inferred from title

author

Michael S. Hildebrand

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Richard J Smith

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Antonio Gambardella

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

19

Ingrid E Scheffer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

11

Renzo Guerrini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

23

Samuel F Berkovic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

17

Francesca Bisulli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

14

Paolo Tinuper

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

18

Tommaso Pippucci

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

7

Brigid M Regan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

20

Christopher A Reid

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

16

Sara Baldassari

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

12

Angelo Labate

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

21

Steven Petrou

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

author name string

Rick Tankard

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Elena V Gazina

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

John A Damiano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Kate M Lawrence

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Hans-Henrik M Dahl

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Aiden Eliot Shearer

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Carla Marini

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Laura Lichetta

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Melanie Bahlo

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

publication date

3 July 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

Annals of clinical and translational neurology

23 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

page(s)

821-830

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways

23 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Integrative genomics viewer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

A map of human genome variation from population-scale sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Generating linkage mapping files from Affymetrix SNP chip data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Targeting of acetylcholinesterase in neurons in vivo: a dual processing function for the proline-rich membrane anchor subunit and the attachment domain on the catalytic subunit

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

A second generation human haplotype map of over 3.1 million SNPs

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Distinguishing sleep disorders from seizures: diagnosing bumps in the night

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Periplakin gene targeting reveals a constituent of the cornified cell envelope dispensable for normal mouse development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Loss of cell polarity causes severe brain dysplasia in Lgl1 knockout mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

A Korean Kindred With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy and Mental Retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Estimation of the inbreeding coefficient through use of genomic data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Functional analysis of ABCA8, a new drug transporter

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

How mutations in the nAChRs can cause ADNFLE epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

PRiMA: the membrane anchor of acetylcholinesterase in the brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

The tumour-suppressor genes lgl and dlg regulate basal protein targeting in Drosophila neuroblasts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

A family with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.

6 July 2018

1 reference

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

21 January 2018

1 reference

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4554443

Autosomal dominant nocturnal frontal lobe epilepsy

27 October 2018

1 reference

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ACN3.224

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

26339676

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26339676%20AND%20SRC:MED&resulttype=core&format=json