(Q24533495)

2

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B Ceulemans

3

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L Lagae

4

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C Van Broeckhoven

5

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P De Jonghe

American Journal of Human Genetics

6

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language of work or name

English

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publication date

June 2001

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published in

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volume

68

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issue

6

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page(s)

1327-32

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

The tetrodotoxin-resistant sodium channel SNS has a specialized function in pain pathways

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

Alternatively spliced sodium channel transcripts in brain and muscle

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226119

30 May 2018

Identifiers

DOI

10.1086/320609

1 reference

release_s7tjqqgkmneedprymhdp23jypy

Fatcat ID

0 references

1 reference

1 reference

PubMed publication ID

11359211

1 reference