A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability (Q41669692)

6 October 2017

title

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability (English)

1 reference

6 October 2017

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1

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Maria Virginia Soldovieri

12 June 2020

3

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12 June 2020

Maurizio Elia

8

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12 June 2020

Federico Zara

9

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12 June 2020

Maurizio Taglialatela

10

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12 June 2020

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Pasquale Striano

2

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12 June 2020

Antonina Fontana

4

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12 June 2020

Rosaria Nardello

5

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12 June 2020

Angela Robbiano

6

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12 June 2020

Giulia Bellini

7

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12 June 2020

Salvatore Mangano

11

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12 June 2020

language of work or name

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19 December 2014

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6 October 2017

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12 June 2020

volume

56

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12 June 2020

issue

2

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12 June 2020

page(s)

e15-20

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A potassium channel mutation in neonatal human epilepsy

12 June 2020

cites work

1 reference

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

21 January 2018

1 reference

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

21 January 2018

1 reference

KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel

21 January 2018

1 reference

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

21 January 2018

1 reference

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

21 January 2018

1 reference

A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions

21 January 2018

1 reference

Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case

21 January 2018

1 reference

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response

21 January 2018

1 reference

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

21 January 2018

1 reference

A novel mutation ofKCNQ3 (c.925T?C) in a Japanese family with benign familial neonatal convulsions

21 January 2018

1 reference

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

21 January 2018

1 reference

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes

21 January 2018

1 reference

The variable phenotypes of KCNQ-related epilepsy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

21 January 2018

1 reference

Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy

21 January 2018

1 reference

Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).

21 January 2018

1 reference

A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes

21 January 2018

1 reference

Benign familial neonatal convulsions followed by benign epilepsy with centrotemporal spikes in two siblings.

21 January 2018

1 reference

Children with benign focal sharp waves in the EEG--developmental disorders and epilepsy

21 January 2018

1 reference