(Q34448160)

2 August 2017

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy (English)

1 reference

2 August 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Samuel Berkovic

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Leanne Dibbens

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Karen Oliver

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Marta A Bayly

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Laura Canafoglia

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Roberto Michelucci

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Salla Markkinen

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Sarah E Heron

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Michael S. Hildebrand

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Antonio Gambardella

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Paolo Tinuper

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ingrid Scheffer

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Jamil Ahmad

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Edith Said

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

João Massano

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Brice Kauffmann

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Rikke S Møller

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Kaitlin E Samocha

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

47

Mark J Daly

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Snezana Maljevic

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Tarja Joensuu

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Silvana Franceschetti

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Eva Andermann

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Frederick Andermann

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Laura Licchetta

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Chiara Criscuolo

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Alessandro Filla

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Edoardo Ferlazzo

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Adeel Ahmad

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Betul Baykan

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Meral Topcu

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Patrizia Riguzzi

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Mary D King

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Cigdem Ozkara

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Danielle M Andrade

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Bernt A Engelsen

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Arielle Crespel

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Matthias Lindenau

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ebba Lohmann

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Veronica Saletti

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Michael Privitera

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Alberto J Espay

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Michael Duchowny

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Rachel Straussberg

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Zaid Afawi

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Bruria Ben-Zeev

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Holger Lerche

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Steven Petrou

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Aarno Palotie

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Anna-Elina Lehesjoki

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

language of work or name

English

0 references

publication date

17 November 2014

1 reference

2 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

39-46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng.3144

9 June 2020

exact match

0 references

cites work

A framework for the interpretation of de novo mutation in human disease

1 reference

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Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

6 July 2018

1 reference

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Biophysics, pathophysiology, and pharmacology of ion channel gating pores

6 July 2018

1 reference

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Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation

6 July 2018

1 reference

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A general framework for estimating the relative pathogenicity of human genetic variants

6 July 2018

1 reference

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Progressive myoclonic epilepsies: definitive and still undetermined causes.

6 July 2018

1 reference

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The genetic basis of DOORS syndrome: an exome-sequencing study

6 July 2018

1 reference

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Activities at the Universal Protein Resource (UniProt)

6 July 2018

1 reference

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Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

6 July 2018

1 reference

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Genic intolerance to functional variation and the interpretation of personal genomes

6 July 2018

1 reference

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dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

6 July 2018

1 reference

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The Genotype-Tissue Expression (GTEx) project

6 July 2018

1 reference

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Improving the accuracy and efficiency of identity-by-descent detection in population data

6 July 2018

1 reference

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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

6 July 2018

1 reference

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Cell biology and function of neuronal ceroid lipofuscinosis-related proteins

6 July 2018

1 reference

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Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

6 July 2018

1 reference

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An integrated map of genetic variation from 1,092 human genomes

6 July 2018

1 reference

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Rate of de novo mutations and the importance of father's age to disease risk

6 July 2018

1 reference

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Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction

6 July 2018

1 reference

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Detecting false-positive signals in exome sequencing

6 July 2018

1 reference

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Alternative splicing regulates kv3.1 polarized targeting to adjust maximal spiking frequency

6 July 2018

1 reference

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A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

6 July 2018

1 reference

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Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish

6 July 2018

1 reference

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Importance of glycosylation on function of a potassium channel in neuroblastoma cells

6 July 2018

1 reference

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Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)

6 July 2018

1 reference

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

6 July 2018

1 reference

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Integrative genomics viewer

6 July 2018

1 reference

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A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

6 July 2018

1 reference

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TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic 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=4281260

MutationTaster evaluates disease-causing potential of sequence alterations

6 July 2018

1 reference

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

6 July 2018

1 reference

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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

6 July 2018

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A method and server for predicting damaging missense mutations

6 July 2018

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KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

6 July 2018

1 reference

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Voltage-gated potassium channels as therapeutic targets

6 July 2018

1 reference

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

6 July 2018

1 reference

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The autosomal recessively inherited progressive myoclonus epilepsies and their genes

6 July 2018

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Clinical picture of EPM1-Unverricht-Lundborg disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Characterization of N-glycosylation consensus sequences in the Kv3.1 channel

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Mutations in NHLRC1 cause progressive myoclonus 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=4281260

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=4281260

Association between conformational mutations in neuroserpin and onset and severity of dementia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

The human genome browser at UCSC

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Kv3 channels: voltage-gated K+ channels designed for high-frequency repetitive firing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Histidine scanning mutagenesis of basic residues of the S4 segment of the shaker k+ channel

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Tandem repeats finder: a program to analyze DNA sequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Pleiotropic effects of a disrupted K+ channel gene: reduced body weight, impaired motor skill and muscle contraction, but no seizures

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Contribution of the S4 segment to gating charge in the Shaker K+ channel.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Localization of a highly conserved human potassium channel gene (NGK2-KV4; KCNC1) to chromosome 11p15

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Progressive myoclonus epilepsies: specific causes and diagnosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

6 July 2018

1 reference

Mutations in SACS cause atypical and late-onset forms of ARSACS.

21 January 2018

1 reference

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.

21 January 2018

1 reference

TBC1D24 truncating mutation resulting in severe neurodegeneration.

21 January 2018

1 reference

The spectrum of SCN1A-related infantile epileptic encephalopathies.

21 January 2018

1 reference

Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel

21 January 2018

1 reference

Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.

21 January 2018

1 reference

When, where, and how much? Expression of the Kv3.1 potassium channel in high-frequency firing neurons.

21 January 2018

1 reference

Loss of cortical GABA terminals in Unverricht-Lundborg disease.

21 January 2018

1 reference

Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Alcohol hypersensitivity, increased locomotion, and spontaneous myoclonus in mice lacking the potassium channels Kv3.1 and Kv3.3.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Function of specific K(+) channels in sustained high-frequency firing of fast-spiking neocortical interneurons.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Increased gamma- and decreased delta-oscillations in a mouse deficient for a potassium channel expressed in fast-spiking interneurons.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Control of neurotransmitter release by presynaptic waveform at the granule cell to Purkinje cell synapse.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4281260

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25401298

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3144

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25401298%20AND%20SRC:MED&resulttype=core&format=json