(Q37197859)

18 August 2017

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients (English)

1 reference

18 August 2017

Xilma R Ortiz-Gonzalez

object named as

Xilma R Ortiz-Gonzalez

12

0 references

John J. Millichap

object named as

John J Millichap

1

0 references

Sarah Weckhuysen

22

object named as

Sarah Weckhuysen

1 reference

18 August 2017

Kristen L Park

2

1 reference

18 August 2017

Tammy Tsuchida

3

1 reference

18 August 2017

Bruria Ben-Zeev

4

1 reference

18 August 2017

Lionel Carmant

5

1 reference

18 August 2017

Robert Flamini

6

1 reference

18 August 2017

Nishtha Joshi

7

1 reference

18 August 2017

Paul M Levisohn

8

1 reference

18 August 2017

Eric Marsh

9

1 reference

18 August 2017

Srishti Nangia

10

1 reference

18 August 2017

Vinodh Narayanan

11

1 reference

18 August 2017

Marc C Patterson

13

1 reference

18 August 2017

Phillip L Pearl

14

1 reference

18 August 2017

Brenda Porter

15

1 reference

18 August 2017

Keri Ramsey

16

1 reference

18 August 2017

Emily L McGinnis

17

1 reference

18 August 2017

Maurizio Taglialatela

18

1 reference

18 August 2017

Molly Tracy

19

1 reference

18 August 2017

Baouyen Tran

20

1 reference

18 August 2017

Charu Venkatesan

21

1 reference

18 August 2017

Edward C Cooper

23

1 reference

18 August 2017

22 August 2016

1 reference

18 August 2017

1 reference

18 August 2017

2

1 reference

18 August 2017

5

1 reference

18 August 2017

e96

1 reference

Potent KCNQ2/3-specific channel activator suppresses in vivo epileptic activity and prevents the development of tinnitus

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

N-Pyridyl and Pyrimidine Benzamides as KCNQ2/Q3 Potassium Channel Openers for the Treatment of Epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

The urinary safety profile and secondary renal effects of retigabine (ezogabine): a first-in-class antiepileptic drug that targets KCNQ (K(v)7) potassium channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

The mechanism of action of retigabine (ezogabine), a first-in-class K+ channel opener for the treatment of epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Driving with no brakes: molecular pathophysiology of Kv7 potassium channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Activation of Kv7 (KCNQ) voltage-gated potassium channels by synthetic compounds

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Neonatal seizures with tonic clonic sequences and poor developmental outcome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Early and effective treatment of KCNQ2 encephalopathy.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

The variable phenotypes of KCNQ-related epilepsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

KCNQ2 Potassium Channel Epileptic Encephalopathy Syndrome: Divorce of an Electro-Mechanical Couple?

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Synthesis and Evaluation of Potent KCNQ2/3-Specific Channel Activators.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Blue-gray mucocutaneous discoloration: a new adverse effect of ezogabine.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Efficacy and tolerability exposure-response relationship of retigabine (ezogabine) immediate-release tablets in patients with partial-onset seizures.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Possible induction of West syndrome by oxcarbazepine therapy in a patient with complex partial seizures.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Design, synthesis and biological activity of pyrazolo[1,5-a]pyrimidin-7(4H)-ones as novel Kv7/KCNQ potassium channel activators.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Efficacy and safety of adjunctive ezogabine (retigabine) in refractory partial epilepsy.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Benign familial neonatal convulsions: always benign?

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995058

Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27602407

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/27602407

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Seizure characteristics in chromosome 20 benign familial neonatal convulsions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27602407

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/NXG.0000000000000096

1 reference

18 August 2017

1 reference

18 August 2017

1 reference