Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome (Q34359072)

1 August 2017

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome (English)

1 reference

1 August 2017

Anna Ka-Yee Kwong

1

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1 August 2017

Cheuk-Wing Fung

series ordinal

2

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1 August 2017

Siu-Yuen Chan

series ordinal

3

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1 August 2017

Virginia Chun-Nei Wong

series ordinal

4

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1 August 2017

language of work or name

English

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publication date

25 July 2012

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1 August 2017

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1 August 2017

7

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1 August 2017

7

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1 August 2017

e41802

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Creative Commons Attribution 4.0 International

1 August 2017

start time

25 July 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases

6 July 2018

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

6 July 2018

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Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

6 July 2018

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Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants

6 July 2018

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The core Dravet syndrome phenotype

6 July 2018

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A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome

6 July 2018

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Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

6 July 2018

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Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.

6 July 2018

1 reference

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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405017

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

6 July 2018

1 reference

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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405017

Epilepsy and mental retardation limited to females: an under-recognized disorder

6 July 2018

1 reference

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Spatiotemporal expression pattern of non-clustered protocadherin family members in the developing rat brain

6 July 2018

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Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

6 July 2018

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Na channel gene mutations in epilepsy--the functional consequences

6 July 2018

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Genes and loci involved in febrile seizures and related epilepsy syndromes

6 July 2018

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Sodium channel mutations in epilepsy and other neurological disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405017

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

6 July 2018

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delta-Protocadherins: a gene family expressed differentially in the mouse brain

6 July 2018

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Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

6 July 2018

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Sodium channels SCN1A, SCN2A and SCN3A in familial autism

6 July 2018

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

6 July 2018

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Cadherin superfamily genes: functions, genomic organization, and neurologic diversity

6 July 2018

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405017

A striking organization of a large family of human neural cadherin-like cell adhesion genes

6 July 2018

1 reference

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Amino acid difference formula to help explain protein evolution

6 July 2018

1 reference

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The spectrum of SCN1A-related infantile epileptic encephalopathies.

6 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

Distal initiation and active propagation of action potentials in interneuron dendrites.

21 January 2018

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The SCN1A variant database: a novel research and diagnostic tool.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

Genotype-phenotype associations in SCN1A-related epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

Automated splicing mutation analysis by information theory.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

Milder phenotype with SCN1A truncation mutation other than SMEI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

Autism in Dravet syndrome: prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405017

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

27 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0041802

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

1 reference

12 December 2020

Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0041802

Identifiers

DOI

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1 August 2017

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1 August 2017

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