Inventaire - your friends and communities are your best library

Sodium channel SCN1A and epilepsy: mutations and mechanisms

author

Alan Goldin

published in: Epilepsia

date of publication: 2010-09-01

main subject: sodium

Cites articles 92

Date

Title

Authors

2010-01-25

Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities

Sergio Tufik, Alan Goldin
2010-01-19

Genetic testing in the epilepsies--report of the ILAE Genetics Commission

Ruth Ottman, Shinichi Hirose, Iscia Lopes-Cendes, Jeffrey L. Noebels, Federico Zara, Ingrid Scheffer, José M Serratosa, Holger Lerche
2009-09-01

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies
2009-09-18

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome
2009-08-31

Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies
2009-08-01

A functional null mutation of SCN1B in a patient with Dravet syndrome

Fumitaka Oyama, Lori L. Isom
2009-02-20

Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy

Frank H. Yu
2009-02-08

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

Yuehua Zhang, Leanne Dibbens, Ingrid Scheffer
2009-01-01

Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse

Ingrid Scheffer
2009-05-03

A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation

Massimo Mantegazza, Sergio Tufik, Alan Goldin
2009-09-23

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

Shinichi Hirose
2009-07-26

Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation

Tun Li, Yousheng Shu
2009-10-01

The SCN1A variant database: a novel research and diagnostic tool

Arvid Suls
2009-03-12

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis

Davide Mei, Maurizio Elia, Samuel Berkovic, Ingrid Scheffer, Leanne Dibbens, Jacinta M McMahon, Nicola Specchio, Federico Zara, Renzo Guerrini, Helen Cross, Pasquale Striano, Elena Di Gennaro, Lucio Giordano, Zaid Afawi, Maria Roberta Cilio, Xenia Iona, Rima Nabbout, Olivier Dulac, Eva Andermann, John Frederick Mulley
2009-07-08

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

Sarah E Heron, Ingrid Scheffer, Jacinta M McMahon, Samuel Berkovic
2008-11-01

Inherited neuronal ion channelopathies: new windows on complex neurological diseases
2008-09-19

A catalog of SCN1A variants
2008-06-09

Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype-phenotype correlation and a comprehensive review of previously published cases
2008-02-07

How do mutant Nav1.1 sodium channels cause epilepsy?
2008-01-11

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
2008-04-21

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

Shinichi Hirose
2008-08-03

A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy
2007-10-10

Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy

Frank H. Yu
2007-05-01

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

Nafiseh Atapour, Shigeyoshi Itohara, Kazuhiro Yamakawa
2007-09-19

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy

Frank H. Yu
2007-11-08

Voltage-gated sodium channel Nav1.1, Nav1.3 and beta1 subunit were up-regulated in the hippocampus of spontaneously epileptic rat
2006-08-20

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

Frank H. Yu, Massimo Mantegazza
2006-06-27

Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies
2006-05-23

A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons
2006-03-01

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability

Jessica Ezzell Hunter, Alan Goldin
2006-01

Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy

Christoph Lossin
2006-09-01

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

Arvid Suls, Dirk Goossens, Kristl G Claeys

Article - wd:Q37787324

Welcome to Inventaire

the library of your friends and communities

learn more