(Q46405759)

21 December 2017

title

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (English)

1 reference

21 December 2017

author

Claudia Schurmann

16

1 reference

21 December 2017

Niels Tommerup

18

1 reference

21 December 2017

Wolfram S. Kunz

Wolfram S Kunz

6

0 references

Heinz Erich Wichmann

14

H-Erich Wichmann

1 reference

21 December 2017

Stefan Schreiber

12

Stefan Schreiber

1 reference

21 December 2017

Heather C. Mefford

7

Heather C Mefford

1 reference

21 December 2017

Andre Franke

8

Andre Franke

1 reference

21 December 2017

Rikke S Møller

1

Rikke S Møller

1 reference

21 December 2017

Ina-Maria Rückert

13

Ina-Maria Rückert

1 reference

21 December 2017

EPICURE Consortium

24

EPICURE Consortium

1 reference

21 December 2017

Hiltrud Muhle

5

Hiltrud Muhle

1 reference

21 December 2017

Holger Lerche

20

Holger Lerche

1 reference

21 December 2017

Holger Trucks

4

Holger Trucks

1 reference

21 December 2017

author name string

Yvonne G Weber

2

1 reference

21 December 2017

Laura L Klitten

3

1 reference

21 December 2017

Monika Kautza

9

1 reference

21 December 2017

Peter Wolf

10

1 reference

21 December 2017

Dieter Dennig

11

1 reference

21 December 2017

Jan P Ernst

15

1 reference

21 December 2017

Hans J Grabe

17

1 reference

21 December 2017

Ulrich Stephani

19

1 reference

21 December 2017

Helle Hjalgrim

21

1 reference

21 December 2017

Ingo Helbig

22

1 reference

21 December 2017

Thomas Sander

23

1 reference

21 December 2017

publication date

7 January 2013

1 reference

21 December 2017

published in

Epilepsia

1 reference

21 December 2017

volume

54

1 reference

21 December 2017

issue

2

1 reference

21 December 2017

page(s)

256-264

1 reference

21 December 2017

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

cites work

1 reference

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

21 January 2018

1 reference

A genetic model for neurodevelopmental disease

21 January 2018

1 reference

The genetic variability and commonality of neurodevelopmental disease

21 January 2018

1 reference

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

21 January 2018

1 reference

A polygenic heterogeneity model for common epilepsies with complex genetics.

21 January 2018

1 reference

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

21 January 2018

1 reference

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

21 January 2018

1 reference

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

1 reference

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

21 January 2018

1 reference

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

21 January 2018

1 reference

The 5-HT7 receptor and disorders of the nervous system: an overview

21 January 2018

1 reference

Navigating the channels and beyond: unravelling the genetics of the epilepsies

21 January 2018

1 reference

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

1 reference

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

21 January 2018

1 reference

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

21 January 2018

1 reference

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

1 reference

Population analysis of large copy number variants and hotspots of human genetic disease

21 January 2018

1 reference

Neurexin 1 (NRXN1) deletions in schizophrenia

21 January 2018

1 reference

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

1 reference

Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis

21 January 2018

1 reference

Susceptibility genes for complex epilepsy

21 January 2018

1 reference

A 15q13.3 microdeletion segregating with autism

21 January 2018

1 reference

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

21 January 2018

1 reference

Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity

21 January 2018

1 reference

Disruption of the neurexin 1 gene is associated with schizophrenia

21 January 2018

1 reference

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

21 January 2018

1 reference

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

21 January 2018

1 reference

Neuroligins and neurexins link synaptic function to cognitive disease

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EPI.12078

1 reference

21 December 2017

1 reference

21 December 2017