PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder (Q37977871)

26 August 2017

PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder (English)

1 reference

infantile epileptic encephalopathy

26 August 2017

1 reference

Christel Depienne

1

1 reference

PubMed ID

22267240

26 August 2017

Eric LeGuern

series ordinal

2

1 reference

26 August 2017

14 February 2012

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26 August 2017

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26 August 2017

33

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26 August 2017

627-634

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26 August 2017

4

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Protocadherin-19 and N-cadherin interact to control cell movements during anterior neurulation

26 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Screening the human protocadherin 8 (PCDH8) gene in schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Age-associated skewing of X-inactivation ratios of blood cells in normal females: a candidate-gene analysis approach.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Control of skeletal patterning by ephrinB1-EphB interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Gene expression profiling in Brodmann's area 46 from subjects with schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Protocadherin-19 is essential for early steps in brain morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Absence of layer-specific cadherin expression profiles in the neocortex of the reeler mutant mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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/10.1002%2FHUMU.22029

A new familial form of convulsive disorder and mental retardation limited to females

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

The expression of non-clustered protocadherins in adult rat hippocampal formation and the connecting brain regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Layer-specific expression of multiple cadherins in the developing visual cortex (V1) of the ferret

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Cadherin expression in the somatosensory cortex: evidence for a combinatorial molecular code at the single-cell level.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

The genetics of Dravet syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Protocadherin family: diversity, structure, and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Identifying autism loci and genes by tracing recent shared ancestry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Cadherin-mediated cell-cell adhesion: sticking together as a family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Type II cadherin ectodomain structures: implications for classical cadherin specificity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

delta-Protocadherins: unique structures and functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Adhesion properties and retinofugal expression of chicken protocadherin-19.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

inferred from DOI database lookup

7 January 2021

based on heuristic

A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

inferred from DOI database lookup

7 January 2021

based on heuristic

Protocadherin 19 mutations in girls with infantile-onset epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22029

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22029

1 reference

26 August 2017

1 reference

PubMed ID

22267240