(Q30555468)

19 August 2017

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients (English)

1 reference

19 August 2017

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24107868%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Rikke S Møller

6

1 reference

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1 June 2020

Rita Horvath

12

1 reference

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1 June 2020

Tiziana Pisano

14

1 reference

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1 June 2020

Simone Mandelstam

26

1 reference

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1 June 2020

Ingrid Scheffer

27

1 reference

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1 June 2020

Arvid Suls

31

1 reference

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1 June 2020

23

Renzo Guerrini

1 reference

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1 June 2020

24

Annapurna Poduri

1 reference

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1 June 2020

25

Johannes R Lemke

1 reference

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1 June 2020

29

Pasquale Striano

1 reference

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1 June 2020

32

Peter De Jonghe

1 reference

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1 June 2020

4

Rudy Van Coster

1 reference

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1 June 2020

8

An-Sofie Schoonjans

1 reference

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1 June 2020

9

Berten Ceulemans

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24107868%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

11

Christin Eltze

1 reference

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1 June 2020

15

Lucio Giordano

1 reference

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1 June 2020

16

Kevin Rostasy

1 reference

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1 June 2020

19

Andrea Bevot

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24107868%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

22

Beth Sheidley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24107868%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

28

Marco Angriman

1 reference

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1 June 2020

author name string

Vanja Ivanovic

2

1 reference

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1 June 2020

Rik Hendrickx

3

1 reference

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1 June 2020

Sabine Grønborg

7

1 reference

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1 June 2020

Sinead B Heavin

10

1 reference

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1 June 2020

Gianluca Casara

13

1 reference

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1 June 2020

Edda Haberlandt

17

1 reference

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1 June 2020

Beate Albrecht

18

1 reference

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1 June 2020

Ira Benkel

20

1 reference

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1 June 2020

Steffan Syrbe

21

1 reference

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1 June 2020

Carla Marini

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24107868%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

KCNQ2 Study Group

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24107868%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Helle Hjalgrim

5

1 reference

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1 June 2020

language of work or name

English

0 references

publication date

9 October 2013

1 reference

19 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24107868%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24107868%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

19

1 reference

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1 June 2020

page(s)

1697-1703

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24107868%20AND%20SRC:MED&resulttype=core&format=json

Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data.

1 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

Neuronal potassium channel openers in the management of epilepsy: role and potential of retigabine.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

RNA therapeutics: beyond RNA interference and antisense oligonucleotides

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

Gene therapy for Huntington's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

Targeting RNA to treat neuromuscular disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

Perspectives on gene therapy in myotonic dystrophy type 1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

Neuronal KCNQ potassium channels: physiology and role in disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

A potassium channel mutation in neonatal human epilepsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

How common is ictal hypoxemia and bradycardia in children with partial complex and generalized convulsive seizures?

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3812107

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24107868

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24107868

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/01.WNL.0000435296.72400.A1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24107868%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24107868%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

24107868

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24107868%20AND%20SRC:MED&resulttype=core&format=json