A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years (Q28239316)

14

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Gerrit-Jan de Haan

object named as

Gerrit-Jan de Haan

1

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Dalila Pinto

object named as

Dalila Pinto

2

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Paul Boon

11

object named as

Paul Boon

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author name string

Dietbrandt Carton

3

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Adri Bader

4

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Jorien Witte

5

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Edith Peters

6

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Gerard van Erp

7

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Willem Vandereyken

8

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Eduard Boezeman

9

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Martin C Wapenaar

10

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Dicky Halley

12

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Bobby P C Koeleman

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

13

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language of work or name

English

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publication date

May 2006

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published in

Epilepsia

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volume

47

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issue

5

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page(s)

851-9

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cites work

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

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

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Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel

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A potassium channel mutation in neonatal human epilepsy

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

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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

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A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

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Benign familial neonatal convulsions: Evidence for clinical and genetic heterogeneity

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A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

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A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly

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Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy

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

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Ion channel variation causes epilepsies

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Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor

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A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family

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A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family

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

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Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

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M-channels: neurological diseases, neuromodulation, and drug development.

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Neuronal KCNQ potassium channels: physiology and role in disease.

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Illegitimate (or ectopic) transcription proceeds through the usual promoters

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Illegitimate transcription: its use in the study of inherited disease

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Recurrence of steroid-responsive nephrotic syndrome after renal transplantation

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

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

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

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

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Benign familial neonatal convulsions: abnormal intrauterine movements, provocation by feeding and ICTAL EEG.

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Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene

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Quantitative estimation of minor mRNAs by cDNA-polymerase chain reaction. Application to dystrophin mRNA in cultured myogenic and brain cells

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De novo KCNQ2 mutations in patients with benign neonatal seizures

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Seizure characteristics in chromosome 20 benign familial neonatal convulsions

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Univerricht-Lundborg disease: underdiagnosed in the Netherlands

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Familial neonatal and infantile seizures: an autosomal-dominant disorder

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