(Q40184593)

18 September 2017

title

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes (English)

1 reference

18 September 2017

4

1 reference

18 September 2017

35

1 reference

18 September 2017

32

Karin Jurkat-Rott

0 references

Leroy Hood

36

Leroy Hood

0 references

Almuth Caliebe

17

Almuth Caliebe

0 references

Helle Hjalgrim

29

Helle Hjalgrim

0 references

Camila V Esguerra

Camila V Esguerra

46

0 references

Peter Nürnberg

44

Peter Nürnberg

1 reference

18 September 2017

43

Rudi Balling

1 reference

18 September 2017

23

Sarah Weckhuysen

1 reference

18 September 2017

Rikke S Møller

28

0 references

Alexander D Crawford

45

Alexander D Crawford

1 reference

18 September 2017

16

Franz Rüschendorf

1 reference

18 September 2017

11

Holger Thiele

1 reference

18 September 2017

37

David J Galas

1 reference

18 September 2017

Julian Schubert

1

1 reference

18 September 2017

Aleksandra Siekierska

2

1 reference

18 September 2017

Mélanie Langlois

3

1 reference

18 September 2017

Clément Huneau

5

1 reference

18 September 2017

Felicitas Becker

6

1 reference

18 September 2017

Hiltrud Muhle

7

1 reference

18 September 2017

Arvid Suls

8

1 reference

18 September 2017

Johannes R Lemke

9

1 reference

18 September 2017

Carolien G F de Kovel

10

1 reference

18 September 2017

Kathryn Konrad

12

1 reference

18 September 2017

Amit Kawalia

13

1 reference

18 September 2017

Mohammad R Toliat

14

1 reference

18 September 2017

Thomas Sander

15

1 reference

18 September 2017

Inga Nagel

18

1 reference

18 September 2017

Bernard Kohl

19

1 reference

18 September 2017

Angela Kecskés

20

1 reference

18 September 2017

Maxime Jacmin

21

1 reference

18 September 2017

Katia Hardies

22

1 reference

18 September 2017

Erik Riesch

24

1 reference

18 September 2017

Thomas Dorn

25

1 reference

18 September 2017

Eva H Brilstra

26

1 reference

18 September 2017

Stephanie Baulac

27

1 reference

18 September 2017

Bobby P C Koeleman

30

1 reference

18 September 2017

EuroEPINOMICS RES Consortium

31

1 reference

18 September 2017

Frank Lehman-Horn

33

1 reference

18 September 2017

Jared C Roach

34

1 reference

18 September 2017

Benoit Martin

38

1 reference

18 September 2017

Peter A M de Witte

39

1 reference

18 September 2017

Saskia Biskup

40

1 reference

18 September 2017

Peter De Jonghe

41

1 reference

18 September 2017

Ingo Helbig

42

1 reference

18 September 2017

Yvonne G Weber

47

1 reference

18 September 2017

Holger Lerche

48

1 reference

18 September 2017

language of work or name

English

0 references

publication date

2 November 2014

1 reference

18 September 2017

1 reference

18 September 2017

volume

46

1 reference

18 September 2017

issue

12

1 reference

18 September 2017

page(s)

1327-1332

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.3130

18 September 2017

exact match

0 references

cites work

The epidemiology of seizure disorders in infancy and childhood: definitions and classifications

1 reference

Genetics of febrile seizure subtypes and syndromes: a twin study

21 January 2018

1 reference

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

21 January 2018

1 reference

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

21 January 2018

1 reference

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

21 January 2018

1 reference

Neurotransmitter release: the last millisecond in the life of a synaptic vesicle

21 January 2018

1 reference

Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family

21 January 2018

1 reference

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

21 January 2018

1 reference

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

21 January 2018

1 reference

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

21 January 2018

1 reference

PRRT2 mutations are the major cause of benign familial infantile seizures.

21 January 2018

1 reference

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

21 January 2018

1 reference

21 January 2018

1 reference

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

21 January 2018

1 reference

Effective targeted gene 'knockdown' in zebrafish

21 January 2018

1 reference

Validation of the zebrafish pentylenetetrazol seizure model: locomotor versus electrographic responses to antiepileptic drugs.

21 January 2018

1 reference

Mechanisms of physiological and epileptic HFO generation.

21 January 2018

1 reference

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

Heterogeneity of glutamatergic and GABAergic release machinery in cerebral cortex: analysis of synaptogyrin, vesicle-associated membrane protein, and syntaxin.

21 January 2018

1 reference

Glutamate drives the touch response through a rostral loop in the spinal cord of zebrafish embryos

21 January 2018

1 reference

Syntaxin-1 N-peptide and Habc-domain perform distinct essential functions in synaptic vesicle fusion

21 January 2018

1 reference

Conformational switch of syntaxin-1 controls synaptic vesicle fusion

21 January 2018

1 reference

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

21 January 2018

1 reference

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

21 January 2018

1 reference

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

21 January 2018

1 reference

Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees

21 January 2018

1 reference

Mega2: data-handling for facilitating genetic linkage and association analyses

21 January 2018

1 reference

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

Mapping short DNA sequencing reads and calling variants using mapping quality scores

21 January 2018

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

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

21 January 2018

1 reference

Dindel: accurate indel calls from short-read data

21 January 2018

1 reference

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

21 January 2018

1 reference

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 January 2018

1 reference

Chromosomal haplotypes by genetic phasing of human families

21 January 2018

1 reference

Morpholino antisense oligomers: design, preparation, and properties

21 January 2018

1 reference

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

21 January 2018

1 reference

12 December 2020

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

1 reference

12 December 2020

GRR: graphical representation of relationship errors

1 reference

12 December 2020

Phosphorylated syntaxin 1 is localized to discrete domains along a subset of axons.

1 reference

12 December 2020

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

12 December 2020

A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.3130

1 reference

Dimensions Publication ID

18 September 2017

1010412367

0 references

1 reference