Genetic mechanisms that underlie epilepsy (Q35752437)

10 August 2017

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title

Genetic mechanisms that underlie epilepsy (English)

1 reference

10 August 2017

Ortrud K Steinlein

1

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PubMed ID

15100722

10 August 2017

language of work or name

English

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publication date

1 May 2004

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Nature Reviews Neuroscience

10 August 2017

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10 August 2017

5

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10 August 2017

400-408

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10 August 2017

5

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https://scigraph.springernature.com/pub.10.1038/nrn1388

10 August 2017

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cites work

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

1 reference

A potassium channel mutation in neonatal human epilepsy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Sodium-channel defects in benign familial neonatal-infantile seizures

21 January 2018

1 reference

A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Neurological disorders caused by inherited ion-channel mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

21 January 2018

1 reference

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

21 January 2018

1 reference

How mutations in the nAChRs can cause ADNFLE epilepsy

21 January 2018

1 reference

Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations

21 January 2018

1 reference

A Korean Kindred With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy and Mental Retardation

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

M-currents: an update

1 reference

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

21 January 2018

1 reference

Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation

21 January 2018

2 references

21 January 2018

inferred from DOI database lookup

7 January 2021

based on heuristic

Molecular basis of an inherited epilepsy

1 reference

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

21 January 2018

1 reference

Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24.

21 January 2018

1 reference

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A common protein interaction domain links two recently identified epilepsy genes

21 January 2018

1 reference

The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders

21 January 2018

1 reference

A novel gene causing a mendelian audiogenic mouse epilepsy

21 January 2018

1 reference

A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors

21 January 2018

1 reference

No evidence for a seriously increased malignancy risk in LGI1-caused epilepsy.

21 January 2018

1 reference

Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.

21 January 2018

1 reference

Association between genetic variation of CACNA1H and childhood absence epilepsy

21 January 2018

1 reference

Genome search for susceptibility loci of common idiopathic generalised epilepsies

21 January 2018

1 reference

Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy

21 January 2018

1 reference

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

21 January 2018

1 reference

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

21 January 2018

1 reference

Mutations in NHLRC1 cause progressive myoclonus epilepsy

21 January 2018

1 reference

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

21 January 2018

1 reference

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 January 2018

1 reference

RNAi reveals doublecortin is required for radial migration in rat neocortex

21 January 2018

1 reference

Protein-protein interactions, cytoskeletal regulation and neuronal migration

21 January 2018

1 reference

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

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2

31 March 2020

1 reference

Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation

31 March 2020

1 reference

Autosomal dominant nocturnal frontal lobe epilepsy

31 March 2020

1 reference

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

31 March 2020

1 reference

A de novo mutation in sporadic nocturnal frontal lobe epilepsy

31 March 2020

1 reference

Seizure characteristics in chromosome 20 benign familial neonatal convulsions

31 March 2020

1 reference

Classification of familial neonatal convulsions

31 March 2020

1 reference

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

31 March 2020

1 reference

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

31 March 2020

1 reference

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

31 March 2020

1 reference

Autosomal dominant partial epilepsy with auditory features: defining the phenotype

31 March 2020

1 reference

Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features

31 March 2020

1 reference

Physical and functional characterization of the human LGI1 gene and its possible role in glioma development

31 March 2020

1 reference

Epilepsies in twins: genetics of the major epilepsy syndromes.

31 March 2020

1 reference

Mapping of genes predisposing to idiopathic generalized epilepsy

31 March 2020

1 reference

Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy

31 March 2020

1 reference

RETRACTED: Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy

31 March 2020

1 reference

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

31 March 2020

1 reference

Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes

31 March 2020

1 reference

Doublecortin is required in mice for lamination of the hippocampus but not the neocortex.

31 March 2020

1 reference

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

31 March 2020

1 reference

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

31 March 2020

1 reference

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder

31 March 2020

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NRN1388

1 reference

release_52i3b3fz75b6hgllsu6ysgrhwu

10 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/52i3b3fz75b6hgllsu6ysgrhwu

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

15100722

1 reference

PubMed ID

15100722