(Q34641436)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015163%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

review article

1 reference

title

Genetic abnormalities underlying familial epilepsy syndromes (English)

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9 November 2019

1

1 reference

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9 November 2019

Motohiro Okada

2

1 reference

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9 November 2019

Kazuhiro Yamakawa

3

1 reference

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9 November 2019

author name string

Takashi Sugawara

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015163%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Goryu Fukuma

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015163%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Masatoshi Ito

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015163%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Sunao Kaneko

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015163%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Akihisa Mitsudome

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015163%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 June 2002

1 reference

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9 November 2019

published in

Brain and Development

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015163%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

24

1 reference

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9 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015163%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

211-222

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015163%20AND%20SRC:MED&resulttype=core&format=json

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

9 November 2019

cites work

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7 January 2021

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder

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7 January 2021

Epilepsies with single gene inheritance.

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7 January 2021

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2

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7 January 2021

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

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7 January 2021

A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.

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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

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

Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family

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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

Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors

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7 January 2021

Acetylcholine receptor channel imaged in the open state

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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

New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies

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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

Reduced antinociception in mice lacking neuronal nicotinic receptor subunits

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7 January 2021

Alternative mechanism for pathogenesis of an inherited epilepsy by a nicotinic AChR mutation

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7 January 2021

A de novo mutation in sporadic nocturnal frontal lobe epilepsy

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7 January 2021

ILAE classification of epilepsies: its applicability and practical value of different diagnostic categories. Osservatorio Regionale per L'Epilessia (OREp), Lombardy

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7 January 2021

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

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7 January 2021

Benign familial neonatal convulsions: Evidence for clinical and genetic heterogeneity

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7 January 2021

Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.

1 reference

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7 January 2021

A potassium channel mutation in neonatal human epilepsy

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone

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7 January 2021

Kinetic and pharmacological properties of the M-current in rodent neuroblastoma x glioma hybrid cells

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy

1 reference

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7 January 2021

Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions

1 reference

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7 January 2021

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

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7 January 2021

The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Role of ER export signals in controlling surface potassium channel numbers

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7 January 2021

Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability

1 reference

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7 January 2021

KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents

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7 January 2021

Molecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversity

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7 January 2021

Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.

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7 January 2021

Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

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

1 reference

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7 January 2021

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

1 reference

7 January 2021

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

1 reference

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7 January 2021

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

Nomenclature of voltage-gated sodium channels

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

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

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

GABA itself promotes the developmental switch of neuronal GABAergic responses from excitation to inhibition.

1 reference

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7 January 2021

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

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7 January 2021

Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis

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7 January 2021

Developmental analysis of the smellblind mutants: evidence for the role of sodium channels in Drosophila development.

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7 January 2021

A sodium-channel mutation causes isolated cardiac conduction disease

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

Dopaminergic modulation of sodium current in hippocampal neurons via cAMP-dependent phosphorylation of specific sites in the sodium channel alpha subunit.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

Muscarinic modulation of sodium current by activation of protein kinase C in rat hippocampal neurons

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

A sodium channel signaling complex: modulation by associated receptor protein tyrosine phosphatase beta

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

The effect of GABAergic system activity on hyperthermia-induced seizures in rats.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

Temperature-dependent effect of zolpidem on the GABAA receptor-mediated response at recombinant human GABAA receptor subtypes.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

Developmental changes of GABA(A) receptor-chloride channels in rat Meynert neurons.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900056-6

7 January 2021

10.1016/S0387-7604(02)00056-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015163%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference