(Q36774738)

16 August 2017

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title

Channelopathies in idiopathic epilepsy (English)

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16 August 2017

Sarah E Heron

1

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Samuel Berkovic

object named as

Samuel F Berkovic

series ordinal

3

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Ingrid Scheffer

series ordinal

2

object named as

Ingrid E Scheffer

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Leanne Dibbens

series ordinal

4

object named as

Leanne M Dibbens

1 reference

16 August 2017

John C Mulley

5

1 reference

16 August 2017

publication date

1 April 2007

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16 August 2017

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16 August 2017

volume

4

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16 August 2017

issue

2

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16 August 2017

page(s)

295-304

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https://scigraph.springernature.com/pub.10.1016/j.nurt.2007.01.009

16 August 2017

exact match

0 references

cites work

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Autosomal dominant nocturnal frontal lobe epilepsy

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The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits

21 January 2018

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Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

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Five ADNFLE Mutations Reduce the Ca2+ Dependence of the Mammalian α4β2 Acetylcholine Response

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A potassium channel mutation in neonatal human epilepsy

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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De novo KCNQ2 mutations in patients with benign neonatal seizures

21 January 2018

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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

21 January 2018

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

21 January 2018

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Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC)

21 January 2018

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Neonatal seizures with tonic clonic sequences and poor developmental outcome

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

21 January 2018

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Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.

21 January 2018

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Andreas Rett and benign familial neonatal convulsions revisited

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

The identification and characterization of a noncontinuous calmodulin-binding site in noninactivating voltage-dependent KCNQ potassium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

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

21 January 2018

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Nonsense-mediated mRNA decay in mammals

21 January 2018

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Structural biology: A 3D view of sodium channels

21 January 2018

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Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

21 January 2018

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Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

SCN1A mutations and epilepsy

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

21 January 2018

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Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

21 January 2018

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Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

21 January 2018

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Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

21 January 2018

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De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

21 January 2018

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Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

21 January 2018

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Sodium-channel defects in benign familial neonatal-infantile seizures

21 January 2018

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

21 January 2018

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Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

21 January 2018

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21 January 2018

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A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

A de novo LGI1 mutation in sporadic partial epilepsy with auditory features

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Mutations in EFHC1 cause juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Genetic dissection of the common epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Genetic association studies in epilepsy: "the truth is out there".

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Association between genetic variation of CACNA1H and childhood absence epilepsy

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Genetic variation of CACNA1H in idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Voltage-gated calcium channels and idiopathic generalized epilepsies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Variations on an inhibitory theme: phasic and tonic activation of GABA(A) receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Current status and future directions in the pharmacotherapy of epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

The neurobiology of antiepileptic drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Ion channels as important targets for antiepileptic drug design

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Early identification of refractory epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Practical management issues for idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Management guidelines for children with idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Update on pharmacogenetics in epilepsy: a brief review.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Prediction of drug resistance in epilepsy: not as easy as ABC

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.009

Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation

21 January 2018

1 reference

12 December 2020

A polygenic heterogeneity model for common epilepsies with complex genetics.

1 reference

12 December 2020

A novel GABRG2 mutation associated with febrile seizures

1 reference

12 December 2020

A novel SCN2A mutation in family with benign familial infantile seizures

1 reference

12 December 2020

[Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions]

1 reference

12 December 2020

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

1 reference

12 December 2020

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

1 reference

12 December 2020

Calmodulin is an auxiliary subunit of KCNQ2/3 potassium channels

1 reference

12 December 2020

Treatment with anti-epileptic drugs.

1 reference

12 December 2020

SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Benign familial neonatal-infantile seizures

1 reference

12 December 2020

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

1 reference

12 December 2020

Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder

1 reference

12 December 2020

Seizure phenotypes of a family with missense mutations in SCN2A

1 reference

12 December 2020

Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsion

1 reference

12 December 2020

Ion channels and epilepsy

1 reference

12 December 2020

Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy

1 reference

12 December 2020

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy

1 reference

12 December 2020

10.1016/J.NURT.2007.01.009

Identifiers

DOI

1 reference

Dimensions Publication ID

16 August 2017

1017769091

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1 reference