(Q36344256)

13 August 2017

1 reference

title

Neonatal epilepsy syndromes and GEFS+: mechanistic considerations (English)

1 reference

13 August 2017

Daniel L Burgess

1

1 reference

13 August 2017

1 January 2005

1 reference

13 August 2017

1 reference

13 August 2017

46 Suppl 10

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13 August 2017

51-58

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

13 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

Reduced sodium channel density, altered voltage dependence of inactivation, and increased susceptibility to seizures in mice lacking sodium channel beta 2-subunits

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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/10.1111%2FJ.1528-1167.2005.00359.X

A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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/10.1111%2FJ.1528-1167.2005.00359.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

Localization of a human brain sodium channel gene (SCN2A) to chromosome 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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/10.1111%2FJ.1528-1167.2005.00359.X

Sodium-channel defects in benign familial neonatal-infantile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

Zinc-mediated inhibition of GABA(A) receptors: discrete binding sites underlie subtype specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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/10.1111%2FJ.1528-1167.2005.00359.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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/10.1111%2FJ.1528-1167.2005.00359.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

Normal electrophysiological and behavioral responses to ethanol in mice lacking the long splice variant of the gamma2 subunit of the gamma-aminobutyrate type A receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

A potassium channel mutation in neonatal human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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/10.1111%2FJ.1528-1167.2005.00359.X

Neuronal KCNQ potassium channels: physiology and role in disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

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/10.1111%2FJ.1528-1167.2005.00359.X

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/10.1111%2FJ.1528-1167.2005.00359.X

Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

The K+/Cl- co-transporter KCC2 renders GABA hyperpolarizing during neuronal maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

Debating controversies can enhance creativity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00359.X

10.1111/J.1528-1167.2005.00359.X

21 January 2018

Identifiers

DOI

1 reference

13 August 2017

1 reference

PubMed ID

16359473