A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline (Q28251184)

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12 May 2020

author name string

Kazusaku Kamiya

1

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12 May 2020

Makoto Kaneda

2

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Takashi Sugawara

3

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Emi Mazaki

4

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Nami Okamura

5

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Mauricio Montal

6

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Naomasa Makita

7

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Masaki Tanaka

8

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Katsuyuki Fukushima

9

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Tateki Fujiwara

10

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Yushi Inoue

11

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language of work or name

English

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publication date

17 March 2004

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published in

Journal of Neuroscience

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volume

24

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issue

11

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page(s)

2690-2698

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A perfect message: RNA surveillance and nonsense-mediated decay

12 May 2020

cites work

1 reference

12 December 2020

Type I and type II Na(+) channel alpha-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

beta 3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics

1 reference

12 December 2020

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

1 reference

12 December 2020

Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice

1 reference

12 December 2020

A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Developing nodes of Ranvier are defined by ankyrin-G clustering and are independent of paranodal axoglial adhesion

1 reference

12 December 2020

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Interaction of the Nav1.2a subunit of the voltage-dependent sodium channel with nodal ankyrinG. In vitro mapping of the interacting domains and association in synaptosomes

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular basis of an inherited epilepsy

1 reference

12 December 2020

Sodium-channel defects in benign familial neonatal-infantile seizures

1 reference

12 December 2020

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

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12 December 2020

Functional specialization of the axon initial segment by isoform-specific sodium channel targeting.

1 reference

12 December 2020

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

1 reference

12 December 2020

Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2

1 reference

12 December 2020

Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain

1 reference

12 December 2020

Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel

1 reference

12 December 2020

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

1 reference

12 December 2020

Restoration of membrane excitability of squid giant axons by reagents activating tyrosine-tubulin ligase

1 reference

12 December 2020

Microtubules inside the plasma membrane of squid giant axons and their possible physiological function

1 reference

12 December 2020

Breakdown of cytoskeletal filaments selectively reduces Na and Ca spikes in cultured mammal neurones

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12 December 2020

Cytoskeleton modulates gating of voltage-dependent sodium channel in heart

1 reference

12 December 2020

beta 0 thalassemia, a nonsense mutation in man

1 reference

12 December 2020

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

1 reference

12 December 2020

Cytoskeleton modulates coupling between availability and activation of cardiac sodium channel

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1523/JNEUROSCI.3089-03.2004

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

2943183

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6729532&resulttype=core&format=json

12 May 2020

2943183

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6729532&resulttype=core&format=json

12 May 2020

PubMed publication ID

15028761

2 references

Consolidated OpenCitations Corpus – April 2017

2943183