Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). (Q36344246)

13 August 2017

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title

Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). (English)

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generalized epilepsy with febrile seizures plus

13 August 2017

main subject

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Samuel F Berkovic

5

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Ingrid Scheffer

series ordinal

1

object named as

Ingrid E Scheffer

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13 August 2017

3

Leanne M Dibbens

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13 August 2017

Louise A Harkin

2

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13 August 2017

John C Mulley

series ordinal

4

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13 August 2017

publication date

1 January 2005

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13 August 2017

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13 August 2017

volume

46 Suppl 10

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13 August 2017

page(s)

41-47

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

13 August 2017

cites work

1 reference

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Neonate with benign familial neonatal convulsions: recorded generalized and focal seizures

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

21 January 2018

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Benign familial neonatal convulsions followed by benign epilepsy with centrotemporal spikes in two siblings.

21 January 2018

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A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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A potassium channel mutation in neonatal human epilepsy

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

21 January 2018

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

21 January 2018

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A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

21 January 2018

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Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor

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A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions

21 January 2018

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

21 January 2018

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De novo KCNQ2 mutations in patients with benign neonatal seizures

21 January 2018

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Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

21 January 2018

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Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy

21 January 2018

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Potassium channels: how genetic studies of epileptic syndromes open paths to new therapeutic targets and drugs

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A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes

21 January 2018

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Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

21 January 2018

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Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

21 January 2018

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Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

21 January 2018

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Sodium-channel defects in benign familial neonatal-infantile seizures

21 January 2018

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

21 January 2018

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Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations

21 January 2018

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

21 January 2018

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Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

21 January 2018

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Autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

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A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

21 January 2018

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Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy).

21 January 2018

1 reference

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

21 January 2018

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Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.

21 January 2018

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SCN1A mutations and epilepsy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

21 January 2018

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A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00358.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.1528-1167.2005.00358.X

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00358.X

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00358.X

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00358.X

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00358.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.1528-1167.2005.00358.X

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00358.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00358.X

Severe infantile epilepsies: molecular genetics challenge clinical classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00358.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.1528-1167.2005.00358.X

Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00358.X

Topiramate as add-on drug in severe myoclonic epilepsy in infancy: an Italian multicenter open trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2005.00358.X

10.1111/J.1528-1167.2005.00358.X

21 January 2018

Identifiers

DOI

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13 August 2017

1 reference