(Q28513751)

25 January 2017

title

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

1 reference

25 January 2017

main subject

DEP domain containing 5

1 reference

GOA release 2020-03-11

focal epilepsy

1 reference

epilepsy, familial focal, with variable foci

inferred from title

1 reference

2

Boukje de Vries

0 references

Satyan Chintawar

Satyan Chintawar

6

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Karl Martin Klein

Karl Martin Klein

10

0 references

Francesca Bisulli

Francesca Bisulli

24

0 references

Jozef Gécz

Jozef Gecz

0 references

Ingrid Scheffer

35

Ingrid E. Scheffer

1 reference

25 January 2017

25

Patrick Cossette

1 reference

25 January 2017

34

Samuel F. Berkovic

1 reference

25 January 2017

23

Laura Licchetta

1 reference

25 January 2017

1

Leanne M. Dibbens

1 reference

25 January 2017

Boukje de Vries

2

1 reference

25 January 2017

Simona Donatello

3

1 reference

25 January 2017

Sarah E. Heron

4

1 reference

25 January 2017

Bree L. Hodgson

5

1 reference

25 January 2017

Douglas E. Crompton

7

1 reference

25 January 2017

James N. Hughes

8

1 reference

25 January 2017

Susannah T. Bellows

9

1 reference

25 January 2017

Petra M. C. Callenbach

11

1 reference

25 January 2017

Mark A. Corbett

12

1 reference

25 January 2017

Alison E. Gardner

13

1 reference

25 January 2017

Sara Kivity

14

1 reference

25 January 2017

Xenia Iona

15

1 reference

25 January 2017

Brigid M. Regan

16

1 reference

25 January 2017

Claudia M. Weller

17

1 reference

25 January 2017

Denis Crimmins

18

1 reference

25 January 2017

Terence J. O'Brien

19

1 reference

25 January 2017

Rosa Guerrero-López

20

1 reference

25 January 2017

John C. Mulley

21

1 reference

25 January 2017

Francois Dubeau

22

1 reference

25 January 2017

Paul Q. Thomas

26

1 reference

25 January 2017

Jose Serratosa

28

1 reference

25 January 2017

Oebele F. Brouwer

29

1 reference

25 January 2017

Frederick Andermann

30

1 reference

25 January 2017

Eva Andermann

31

1 reference

25 January 2017

Arn M. J. M. van den Maagdenberg

32

1 reference

25 January 2017

Massimo Pandolfo

33

1 reference

25 January 2017

language of work or name

English

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publication date

1 May 2013

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25 January 2017

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25 January 2017

volume

45

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25 January 2017

issue

5

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25 January 2017

page(s)

546–551

1 reference

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

25 January 2017

cites work

1 reference

Crossref

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

Fast and accurate short read alignment with Burrows-Wheeler transform

21 April 2017

1 reference

Crossref

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

Induced pluripotent stem cell lines derived from human somatic cells

21 April 2017

1 reference

Crossref

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

DEP domains: More than just membrane anchors

21 April 2017

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Channelopathies in idiopathic epilepsy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic variations and associated pathophysiology in the management of epilepsy.

1 reference

12 December 2020

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Neural differentiation of human embryonic stem cells

1 reference

12 December 2020

Validation of a questionnaire for clinical seizure diagnosis

1 reference

12 December 2020

WNTs in synapse formation and neuronal circuitry

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Housekeeping and tissue-specific genes in mouse tissues

1 reference

12 December 2020