Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females (Q33408779)

26 July 2017

title

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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object named as

Alexandra Afenjar

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26 July 2017

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Nadia Bahi-Buisson

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Christel Depienne

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Delphine Bouteiller

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Boris Keren

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Emmanuel Cheuret

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Oriane Trouillard

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Baya Benyahia

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Chloé Quelin

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Wassila Carpentier

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Sophie Julia

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Agnès Gautier

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François Rivier

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Sophie Meyer

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Patrick Berquin

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Marie Hélias

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Isabelle Py

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Serge Rivera

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Isabelle Gourfinkel-An

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Cécile Cazeneuve

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Merle Ruberg

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Rima Nabbout

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Eric Leguern

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26 July 2017

publication date

13 February 2009

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26 July 2017

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26 July 2017

volume

5

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26 July 2017

issue

2

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26 July 2017

page(s)

e1000381

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Creative Commons Attribution 4.0 International

26 July 2017

copyright license

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

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

21 June 2018

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Copy-number variation in control population cohorts

21 June 2018

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Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

21 June 2018

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

21 June 2018

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SRPX2 mutations in disorders of language cortex and cognition

21 June 2018

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delta-Protocadherins: unique structures and functions

21 June 2018

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

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SCN1A mutations and epilepsy

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome

21 June 2018

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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

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Control of skeletal patterning by ephrinB1-EphB interactions

21 June 2018

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

21 June 2018

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21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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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

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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

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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

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26 July 2017

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26 July 2017

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