(Q37368348)

20 August 2017

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

1 reference

20 August 2017

0 references

I Ogiwara

1

1 reference

20 August 2017

K Ito

2

1 reference

20 August 2017

Y Sawaishi

3

1 reference

20 August 2017

H Osaka

4

1 reference

20 August 2017

E Mazaki

5

1 reference

20 August 2017

I Inoue

6

1 reference

20 August 2017

M Montal

7

1 reference

20 August 2017

T Hashikawa

8

1 reference

20 August 2017

T Shike

9

1 reference

20 August 2017

T Fujiwara

10

1 reference

20 August 2017

Y Inoue

11

1 reference

20 August 2017

M Kaneda

12

1 reference

20 August 2017

K Yamakawa

13

1 reference

20 August 2017

language of work or name

English

0 references

publication date

1 September 2009

1 reference

20 August 2017

1 reference

20 August 2017

73

1 reference

20 August 2017

13

1 reference

20 August 2017

1046-1053

1 reference

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

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Sodium channel mutations in epilepsy and other neurological disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

SCN1A mutations and epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Sodium-channel defects in benign familial neonatal-infantile seizures

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Lidocaine-dependent early infantile status epilepticus with highly suppressed EEG.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Sodium channel mRNAs I, II and III in the CNS: cell-specific expression.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

The spectrum of SCN1A-related infantile epileptic encephalopathies

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Distribution of I, II and III subtypes of voltage-sensitive Na+ channel mRNA in the rat brain

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754324

SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19786696

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel SCN2A mutation in family with benign familial infantile seizures

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19786696

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19786696

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E3181B9CEBC

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

19786696

1 reference