Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. - Wikidata - awgldk - TriplyDB

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

http://www.wikidata.org/entity/Q43166554

about

Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.Genetic basis of pediatric epilepsy syndromes.Genetically complex epilepsies, copy number variants and syndrome constellations.Epilepsy and the new cytogenetics.Copy number variation plays an important role in clinical epilepsy.In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission Genetic variations and associated pathophysiology in the management of epilepsy.Nervous system KV7 disorders: breakdown of a subthreshold brake.Forty years from markers to genes.DNA methylation and expression of KCNQ3 in bipolar disorder.Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.The Voltage-Sensing Domain of K(v)7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants.KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.Site-directed mutagenesis of neonatal convulsions associated KCNQ2 gene and its protein expression.Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3.Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.Copy number variation in a hospital-based cohort of children with epilepsy.Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions.

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P2860

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

http://www.wikidata.org/entity/Q43166554

description

2007 nî lūn-bûn

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2007年の論文

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2007年学术文章

@wuu

2007年学术文章

@zh

2007年学术文章

@zh-cn

2007年学术文章

@zh-hans

2007年学术文章

@zh-my

2007年学术文章

@zh-sg

2007年學術文章

@yue

2007年學術文章

@zh-hant

name

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

@en

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

@nl

type

label

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

@en

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

@nl

prefLabel

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

@en

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

@nl

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JMG.2007.051938

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Journal of Medical Genetics

P1476

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

@en

P2093

B E Grinton

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I E Scheffer

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J C Mulley

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K Cox

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R Straussberg

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S E Heron

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S Kivity

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S M Zuberi

http://www.w3.org/2001/XMLSchema#string

Z Afawi

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P2860

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

A potassium channel mutation in neonatal human epilepsy

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

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

Sodium-channel defects in benign familial neonatal-infantile seizures

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

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

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

Channelopathies in idiopathic epilepsy.

Benign familial neonatal convulsions: always benign?

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791-796

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scholarly article

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10.1136/JMG.2007.051938

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12

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44

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Samuel Berkovic

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2652819

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