(Q48183901)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20506560%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

title

Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome (English)

1 reference

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3 February 2020

10

1 reference

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3 February 2020

Kazuhiro Yamakawa

13

1 reference

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3 February 2020

author name string

Tojo Nakayama

1

1 reference

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3 February 2020

Ikuo Ogiwara

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20506560%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Koichi Ito

3

1 reference

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3 February 2020

Makoto Kaneda

4

1 reference

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3 February 2020

Emi Mazaki

5

1 reference

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3 February 2020

Hitoshi Osaka

6

1 reference

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3 February 2020

Hideyuki Ohtani

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20506560%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Yushi Inoue

8

1 reference

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3 February 2020

Tateki Fujiwara

9

1 reference

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3 February 2020

Kazuhiro Haginoya

11

1 reference

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3 February 2020

Shigeru Tsuchiya

12

1 reference

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3 February 2020

publication date

1 July 2010

1 reference

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3 February 2020

1 reference

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3 February 2020

volume

31

1 reference

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3 February 2020

issue

7

1 reference

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3 February 2020

page(s)

820-829

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20506560%20AND%20SRC:MED&resulttype=core&format=json

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

3 February 2020

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DNA sequence requirements for transcriptional initiator activity in mammalian cells

21 January 2018

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Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

21 January 2018

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

21 January 2018

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Diverse transcriptional initiation revealed by fine, large-scale mapping of mRNA start sites

21 January 2018

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MAZ, a zinc finger protein, binds to c-MYC and C2 gene sequences regulating transcriptional initiation and termination

21 January 2018

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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

An SCN9A channelopathy causes congenital inability to experience pain

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7 January 2021

Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

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7 January 2021

Alu repeats and human disease

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7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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7 January 2021

MLPA and MAPH: sensitive detection of deletions and duplications

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7 January 2021

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

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7 January 2021

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

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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

SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes

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7 January 2021

Differentiated pattern of sodium channel expression in dissociated Purkinje neurons maintained in long-term culture.

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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

Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A.

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7 January 2021

The spectrum of SCN1A-related infantile epileptic encephalopathies.

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7 January 2021

Mechanical and enzymatic isolation of mammalian CNS neurons.

1 reference

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7 January 2021

Silencing the type II sodium channel gene: a model for neural-specific gene regulation

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7 January 2021

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

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7 January 2021

Activation of transcription by two factors that bind promoter and enhancer sequences of the human metallothionein gene and SV40

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7 January 2021

Identification of the promoter region and the 5'-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5'-untranslated exons

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7 January 2021

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy

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7 January 2021

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21275

7 January 2021

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21275

7 January 2021

Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21275

7 January 2021

Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21275

7 January 2021

PROMO: detection of known transcription regulatory elements using species-tailored searches

1 reference

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7 January 2021

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.

1 reference

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7 January 2021

A common silencer element in the SCG10 and type II Na+ channel genes binds a factor present in nonneuronal cells but not in neuronal cells

1 reference

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7 January 2021

Identifying autism loci and genes by tracing recent shared ancestry

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7 January 2021

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

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7 January 2021

Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain

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7 January 2021

The EGR family of transcription-regulatory factors: progress at the interface of molecular and systems neuroscience.

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7 January 2021

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies

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7 January 2021

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

1 reference

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7 January 2021

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

1 reference

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7 January 2021

Role of the AP-1 transcription factor c-Jun in developing, adult and injured brain

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7 January 2021

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

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7 January 2021

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures

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7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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7 January 2021

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

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7 January 2021

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

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7 January 2021

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

1 reference

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7 January 2021

The Sp-family of transcription factors

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7 January 2021

Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons

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7 January 2021

Molecular characterization of the sodium channel subunits expressed in mammalian cerebellar Purkinje cells

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7 January 2021

Nav2/NaG channel is involved in control of salt-intake behavior in the CNS.

1 reference

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7 January 2021

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

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7 January 2021

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

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7 January 2021