(Q48264922)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837571%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837571%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

1 reference

8

1 reference

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5 November 2019

author name string

Takashi Sugawara

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837571%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Yuji Tsurubuchi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837571%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Tateki Fujiwara

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837571%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Emi Mazaki-Miyazaki

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837571%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Keiichi Nagata

5

1 reference

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5 November 2019

Mauricio Montal

6

1 reference

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5 November 2019

Yushi Inoue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837571%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 May 2003

1 reference

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5 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837571%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837571%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

2-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837571%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

201-207

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837571%20AND%20SRC:MED&resulttype=core&format=json

Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

A single Na(+) channel mutation causing both long-QT and Brugada syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

1 reference

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7 January 2021

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

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%2FS0920-1211%2803%2900084-6

7 January 2021

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

Secondary structure of the human cardiac Na+ channel C terminus: evidence for a role of helical structures in modulation of channel inactivation

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

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%2FS0920-1211%2803%2900084-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

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%2FS0920-1211%2803%2900084-6

7 January 2021

Molecular basis of an inherited epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

Severe myoclonic epilepsy in infants--a review based on the Tokyo Women's Medical University series of 84 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome).

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

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%2FS0920-1211%2803%2900084-6

7 January 2021

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2803%2900084-6

7 January 2021

10.1016/S0920-1211(03)00084-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837571%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference