(Q43166554)

15 November 2017

0 references

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures (English)

1 reference

15 November 2017

8

1 reference

15 November 2017

S E Heron

1

1 reference

15 November 2017

K Cox

2

1 reference

15 November 2017

B E Grinton

3

1 reference

15 November 2017

S M Zuberi

4

1 reference

15 November 2017

S Kivity

5

1 reference

15 November 2017

Z Afawi

6

1 reference

15 November 2017

R Straussberg

7

1 reference

15 November 2017

I E Scheffer

9

1 reference

15 November 2017

J C Mulley

10

1 reference

15 November 2017

language of work or name

English

0 references

publication date

3 August 2007

1 reference

Journal of Medical Genetics

15 November 2017

1 reference

15 November 2017

44

1 reference

15 November 2017

12

1 reference

15 November 2017

791-796

1 reference

Channelopathies in idiopathic epilepsy

15 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652819

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652819

Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652819

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652819

Sodium-channel defects in benign familial neonatal-infantile seizures

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652819

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652819

A potassium channel mutation in neonatal human epilepsy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652819

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652819

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652819

Benign familial neonatal convulsions: always benign?

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652819

SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652819

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

1 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652819

A novel SCN2A mutation in family with benign familial infantile seizures

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17675531

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17675531

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2007.051938

1 reference

15 November 2017

1 reference

15 November 2017

PubMed publication ID

17675531

1 reference