Sacred disease secrets revealed: the genetics of human epilepsy (Q36210058)

12 August 2017

1 reference

title

Sacred disease secrets revealed: the genetics of human epilepsy (English)

1 reference

12 August 2017

2

1 reference

Antonio V Delgado-Escueta

12 August 2017

4

Guy A Rouleau

0 references

object named as

Antonio V Delgado-Escueta

5

0 references

Patrick Cossette

7

object named as

Patrick Cossette

1 reference

12 August 2017

1

Julie Turnbull

1 reference

12 August 2017

Jennifer A Kearney

3

1 reference

PubMed ID

16049035

12 August 2017

Miriam H Meisler

6

1 reference

PubMed ID

16049035

12 August 2017

Berge A Minassian

8

1 reference

12 August 2017

27 July 2005

1 reference

12 August 2017

Human Molecular Genetics

1 reference

12 August 2017

14

1 reference

12 August 2017

17

1 reference

12 August 2017

2491-2500

1 reference

Epilepsy's role in the historical differentiation of religion, magic, and science

12 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

From sensation to cognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Causes of epilepsy: contributions of the Rochester epidemiology project.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Thalamocortical oscillations in the sleeping and aroused brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Epileptic seizures and epilepsy: definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Molecular basis of an inherited epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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/10.1093%2FHMG%2FDDI250

Sodium channel mutations in epilepsy and other neurological disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Sodium-channel defects in benign familial neonatal-infantile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Sodium channel beta subunits: anything but auxiliary

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Association between genetic variation of CACNA1H and childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Genetic variation of CACNA1H in idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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/10.1093%2FHMG%2FDDI250

T-type calcium channels mediate the transition between tonic and phasic firing in thalamic neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Characterization of ethosuximide reduction of low-threshold calcium current in thalamic neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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/10.1093%2FHMG%2FDDI250

Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Nicotinic acetylcholine receptors and the regulation of neuronal signalling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Presynaptic nicotinic ACh receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

A potassium channel mutation in neonatal human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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/10.1093%2FHMG%2FDDI250

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

De novo KCNQ2 mutations in patients with benign neonatal seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Identification of epilepsy genes in human and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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/10.1093%2FHMG%2FDDI250

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/10.1093%2FHMG%2FDDI250

Immunocytochemical localization of GABABR1 receptor subunits in the basolateral amygdala

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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/10.1093%2FHMG%2FDDI250

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

LGI1: a gene involved in epileptogenesis and glioma progression?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

LGI1 mutations in autosomal dominant partial epilepsy with auditory features

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

A common protein interaction domain links two recently identified epilepsy genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Mutations in EFHC1 cause juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Regulation of axon growth in vivo by activity-based competition

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Neurobiology: sculpted by competition

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Quantitative MRI in patients with idiopathic generalized epilepsy. Evidence of widespread cerebral structural changes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Expanded repeat in canine epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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/10.1093%2FHMG%2FDDI250

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/10.1093%2FHMG%2FDDI250

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI250

21 January 2018

Identifiers

DOI

10.1093/HMG/DDI250

1 reference

12 August 2017

1 reference