(Q34970015)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383274%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

review article

1 reference

title

Genetic identifiers of epilepsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383274%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

3

1 reference

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14 December 2019

author name string

Sunao Kaneko

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383274%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Hiroto Iwasa

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383274%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

publication date

1 January 2002

1 reference

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14 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383274%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

volume

43 Suppl 9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383274%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

page(s)

16-20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383274%20AND%20SRC:MED&resulttype=core&format=json

Progress in mapping human epilepsy genes

14 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

Localization of a gene for partial epilepsy to chromosome 10q

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.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/10.1046%2FJ.1528-1157.43.S.9.5.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/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.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/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

Dysfunction of M-channel enhances propagation of neuronal excitability in rat hippocampus monitored by multielectrode dish and microdialysis systems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

Lack of Association Between Juvenile Myoclonic Epilepsy and HLA-DR13

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

A de novo mutation in sporadic nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X

Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.43.S.9.5.X