Genes and mutations in human idiopathic epilepsy (Q35766434)

10 August 2017

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title

Genes and mutations in human idiopathic epilepsy (English)

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10 August 2017

Ortrud K Steinlein

1

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10 August 2017

publication date

1 June 2004

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10 August 2017

published in

Brain and Development

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10 August 2017

volume

26

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10 August 2017

issue

4

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10 August 2017

page(s)

213-218

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Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder

10 August 2017

cites work

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7 January 2021

Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture.

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7 January 2021

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

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7 January 2021

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

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7 January 2021

Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy

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7 January 2021

Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene

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7 January 2021

Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A de novo mutation in sporadic nocturnal frontal lobe epilepsy

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7 January 2021

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

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7 January 2021

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

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7 January 2021

An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics

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7 January 2021

How mutations in the nAChRs can cause ADNFLE epilepsy

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7 January 2021

Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine

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7 January 2021

A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy

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7 January 2021

Seizure characteristics in chromosome 20 benign familial neonatal convulsions

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7 January 2021

Classification of familial neonatal convulsions

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7 January 2021

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

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7 January 2021

A potassium channel mutation in neonatal human epilepsy

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A novel mutation ofKCNQ3 (c.925T?C) in a Japanese family with benign familial neonatal convulsions

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7 January 2021

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

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7 January 2021

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

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7 January 2021

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Sodium-channel defects in benign familial neonatal-infantile seizures

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7 January 2021

Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

7 January 2021

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

7 January 2021

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

7 January 2021

A novel gene causing a mendelian audiogenic mouse epilepsy

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

7 January 2021

Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

7 January 2021

Genome search for susceptibility loci of common idiopathic generalised epilepsies

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

7 January 2021

Mapping of genes predisposing to idiopathic generalized epilepsy

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

7 January 2021

Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900149-9

7 January 2021

10.1016/S0387-7604(03)00149-9

Identifiers

DOI

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10 August 2017

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