Mutations in DEPDC5 cause familial focal epilepsy with variable foci (Q28513751)

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English	Mutations in DEPDC5 cause familial focal epilepsy with variable foci	scientific journal article

Statements

instance of

scholarly article

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stated in

PubMed

PubMed publication ID

23542697

retrieved

25 January 2017

title

Mutations in DEPDC5 cause familial focal epilepsy with variable foci (English)

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PubMed

PubMed publication ID

23542697

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25 January 2017

main subject

DEP domain containing 5

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GOA release 2020-03-11

focal epilepsy

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based on heuristic

inferred from title

epilepsy, familial focal, with variable foci

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author

Boukje de Vries

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2

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Boukje de Vries

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Satyan Chintawar

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Satyan Chintawar

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6

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Karl Martin Klein

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Karl Martin Klein

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10

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Francesca Bisulli

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Francesca Bisulli

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24

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Jozef Gécz

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Jozef Gecz

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Ingrid Scheffer

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35

object named as

Ingrid E. Scheffer

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PubMed

PubMed publication ID

23542697

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25 January 2017

Patrick Cossette

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Patrick Cossette

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23542697

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Samuel Berkovic

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Samuel F. Berkovic

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23542697

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Laura Licchetta

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Laura Licchetta

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23542697

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Leanne Dibbens

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Leanne M. Dibbens

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23542697

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25 January 2017

author name string

Boukje de Vries

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2

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PubMed

PubMed publication ID

23542697

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Simona Donatello

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3

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23542697

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Sarah E. Heron

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Bree L. Hodgson

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5

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Douglas E. Crompton

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James N. Hughes

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Susannah T. Bellows

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Petra M. C. Callenbach

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Mark A. Corbett

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Alison E. Gardner

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Sara Kivity

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Xenia Iona

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Brigid M. Regan

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Claudia M. Weller

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Denis Crimmins

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Terence J. O'Brien

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23542697

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Rosa Guerrero-López

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23542697

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John C. Mulley

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25 January 2017

Francois Dubeau

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Paul Q. Thomas

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Jose Serratosa

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Oebele F. Brouwer

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23542697

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Frederick Andermann

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Eva Andermann

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Arn M. J. M. van den Maagdenberg

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23542697

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25 January 2017

Massimo Pandolfo

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25 January 2017

language of work or name

English

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publication date

1 May 2013

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23542697

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25 January 2017

published in

Nature Genetics

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23542697

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25 January 2017

volume

45

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issue

5

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23542697

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page(s)

546–551

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23542697

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cites work

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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Crossref

reference URL

https://api.crossref.org/works/10.1038/NG.2599

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21 April 2017

Fast and accurate short read alignment with Burrows-Wheeler transform

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Crossref

reference URL

https://api.crossref.org/works/10.1038/NG.2599

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21 April 2017

Induced pluripotent stem cell lines derived from human somatic cells

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Crossref

reference URL

https://api.crossref.org/works/10.1038/NG.2599

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21 April 2017

DEP domains: More than just membrane anchors

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

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Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

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Channelopathies in idiopathic epilepsy

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

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inferred from PubMed ID database lookup

Conformational stability studies of the pleckstrin DEP domain: definition of the domain boundaries.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

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Genetic variations and associated pathophysiology in the management of epilepsy.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

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inferred from PubMed ID database lookup

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Electrochemical cues regulate assembly of the Frizzled/Dishevelled complex at the plasma membrane during planar epithelial polarization.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

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Neural differentiation of human embryonic stem cells

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

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Validation of a questionnaire for clinical seizure diagnosis

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

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WNTs in synapse formation and neuronal circuitry

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

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Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synergy between all-trans retinoic acid and tumor necrosis factor pathways in acute leukemia cells

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of function of three domains in dishevelled-1: DEP domain is responsible for membrane translocation of dishevelled-1.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Housekeeping and tissue-specific genes in mouse tissues

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542697

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/NG.2599

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1728024

OpenCitations bibliographic resource ID

1728024

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1728024

PubMed publication ID

23542697

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1728024

ResearchGate publication ID

236094030

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