(Q33408779)

26 July 2017

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

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26 July 2017

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23

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Karine Poirier

object named as

Karine Poirier

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Alexandra Afenjar

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Alexandra Afenjar

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26 July 2017

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Nadia Bahi-Buisson

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26 July 2017

Christel Depienne

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26 July 2017

Delphine Bouteiller

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26 July 2017

Boris Keren

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26 July 2017

Emmanuel Cheuret

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26 July 2017

Oriane Trouillard

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26 July 2017

Baya Benyahia

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26 July 2017

Chloé Quelin

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26 July 2017

Wassila Carpentier

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26 July 2017

Sophie Julia

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26 July 2017

Agnès Gautier

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26 July 2017

François Rivier

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26 July 2017

Sophie Meyer

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26 July 2017

Patrick Berquin

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26 July 2017

Marie Hélias

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26 July 2017

Isabelle Py

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26 July 2017

Serge Rivera

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26 July 2017

Isabelle Gourfinkel-An

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26 July 2017

Cécile Cazeneuve

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26 July 2017

Merle Ruberg

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26 July 2017

Rima Nabbout

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26 July 2017

Eric Leguern

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26 July 2017

13 February 2009

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26 July 2017

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26 July 2017

5

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26 July 2017

e1000381

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Creative Commons Attribution 4.0 International

26 July 2017

start time

13 February 2009

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Copy-number variation in control population cohorts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Expression of the delta-protocadherin gene Pcdh19 in the developing mouse embryo

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

SRPX2 mutations in disorders of language cortex and cognition

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

delta-Protocadherins: unique structures and functions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Mammalian cadherins and protocadherins: about cell death, synapses and processing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

SCN1A mutations and epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Severe myoclonic epilepsy in infancy: Dravet syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Eph/ephrin signaling in morphogenesis, neural development and plasticity.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

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)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Control of skeletal patterning by ephrinB1-EphB interactions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Identification and characterization of three members of a novel subclass of protocadherins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2633044

Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings.

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000381

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000381

The spectrum of SCN1A-related infantile epileptic encephalopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000381

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000381

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

21 January 2018

1 reference

12 December 2020

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1000381

Identifiers

DOI

1 reference

26 July 2017

1 reference

26 July 2017

1 reference