(Q34605560)

3 August 2017

1 reference

title

Genes associated with idiopathic epilepsies: a current overview (English)

1 reference

3 August 2017

Yang Lu

1

1 reference

PubMed ID

19298753

3 August 2017

Xuefeng Wang

series ordinal

2

1 reference

PubMed ID

19298753

3 August 2017

language of work or name

1 reference

1 March 2009

1 reference

3 August 2017

Neurological Research

1 reference

3 August 2017

31

1 reference

3 August 2017

2

1 reference

3 August 2017

135-143

1 reference

Report of the ILAE classification core group

3 August 2017

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Genetic focal epilepsies: state of the art and paths to the future

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Genetic etiology of new forms of familial epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

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/10.1179%2F174313209X393942

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Two new putative susceptibility loci for ADNFLE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

SRPX2 mutations in disorders of language cortex and cognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

A targeting motif involved in sodium channel clustering at the axonal initial segment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Sodium-channel defects in benign familial neonatal-infantile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Evidence for a major susceptibility locus at 11q22.1-23.3 has been detected in a large Chinese family with pure grand mal epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

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/10.1179%2F174313209X393942

Association between genetic variation of CACNA1H and childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

New variants in the CACNA1H gene identified in childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Evaluation of CACNA1H in European patients with childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Mutations in EFHC1 cause juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

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/10.1179%2F174313209X393942

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

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/10.1179%2F174313209X393942

Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

Is benign rolandic epilepsy genetically determined?

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F174313209X393942

21 January 2018

Identifiers

DOI

10.1179/174313209X393942

1 reference

3 August 2017

1 reference

PubMed ID

19298753