(Q35761311)

10 August 2017

1 reference

title

Molecular basis of Mendelian idiopathic epilepsies (English)

1 reference

10 August 2017

Robert Robinson

1

1 reference

PubMed ID

15119829

10 August 2017

Mark Gardiner

series ordinal

2

1 reference

PubMed ID

15119829

10 August 2017

language of work or name

English

0 references

publication date

1 January 2004

1 reference

10 August 2017

1 reference

10 August 2017

36

1 reference

10 August 2017

2

1 reference

10 August 2017

89-97

1 reference

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

10 August 2017

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

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/10.1080%2F07853890310019952

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

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/10.1080%2F07853890310019952

Neuronal nicotinic receptors in human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

How mutations in the nAChRs can cause ADNFLE epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Benign familial neonatal convulsions: Evidence for clinical and genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Ion channels and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Sodium-channel defects in benign familial neonatal-infantile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Mechanisms of action of currently prescribed and newly developed antiepileptic drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Genome search for susceptibility loci of common idiopathic generalised epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

A novel gene causing a mendelian audiogenic mouse epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890310019952

10.1080/07853890310019952

21 January 2018

Identifiers

DOI

1 reference

10 August 2017

1 reference

PubMed ID

15119829