(Q83324418)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16691402%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

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

1 reference

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21 January 2020

author name string

Xihui Zhou

1

1 reference

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21 January 2020

Aiqun Ma

2

1 reference

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21 January 2020

Xiaohong Liu

3

1 reference

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21 January 2020

Chen Huang

4

1 reference

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21 January 2020

Yanmin Zhang

5

1 reference

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21 January 2020

Ruiming Shi

6

1 reference

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21 January 2020

Shiwei Mao

7

1 reference

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21 January 2020

Tao Geng

8

1 reference

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21 January 2020

Shengbin Li

9

1 reference

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21 January 2020

publication date

12 May 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16691402%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

21 January 2020

published in

1 reference

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21 January 2020

volume

165

1 reference

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21 January 2020

issue

10

1 reference

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21 January 2020

page(s)

691-695

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00431-006-0157-5

21 January 2020

exact match

0 references

cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-006-0157-5

A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions

21 January 2018

1 reference

12 December 2020

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

1 reference

12 December 2020

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

1 reference

12 December 2020

Sodium-channel defects in benign familial neonatal-infantile seizures

1 reference

12 December 2020

Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity

1 reference

12 December 2020

A novel SCN2A mutation in family with benign familial infantile seizures

1 reference

12 December 2020

Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene

1 reference

12 December 2020

A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

1 reference

12 December 2020

Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes

1 reference

12 December 2020

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

1 reference

12 December 2020

Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q

1 reference

12 December 2020

Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels

1 reference

12 December 2020

Neonatal seizures with tonic clonic sequences and poor developmental outcome

1 reference

12 December 2020

A potassium channel mutation in neonatal human epilepsy

1 reference

12 December 2020

Benign familial infantile epilepsy

1 reference

12 December 2020

Pharmacological activation of normal and arrhythmia-associated mutant KCNQ1 potassium channels

1 reference

12 December 2020

Clinical and genetic study on a new Chinese family with benign familial infantile seizures.

1 reference

12 December 2020

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

1 reference

12 December 2020