A Novel PCDH19 Mutation Inherited From an Unaffected Mother (Q40285554)

19 September 2017

title

A novel PCDH19 mutation inherited from an unaffected mother (English)

1 reference

19 September 2017

A Novel PCDH19 Mutation Inherited From an Unaffected Mother (English)

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2012.03.004

2 January 2025

author name string

Andrey Kirov

2

1 reference

19 September 2017

Albena Todorova

3

1 reference

19 September 2017

Tihomir Todorov

4

1 reference

19 September 2017

Vanyo Mitev

5

1 reference

19 September 2017

Petia S. Dimova

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22633638

2 January 2025

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22633638

2 January 2025

publication date

1 June 2012

1 reference

19 September 2017

June 2012

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22633638

full work available at URL

2 January 2025

https://api.elsevier.com/content/article/PII:S0887899412000914?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2012.03.004

https://api.elsevier.com/content/article/PII:S0887899412000914?httpAccept=text/plain

2 January 2025

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2012.03.004

2 January 2025

1 reference

19 September 2017

volume

46

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19 September 2017

issue

6

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19 September 2017

page(s)

397-400

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

19 September 2017

cites work

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

2 January 2025

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

2 January 2025

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

2 January 2025

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https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2012.03.004

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

2 January 2025

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https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2012.03.004

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

2 January 2025

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https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2012.03.004

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

2 January 2025

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

2 January 2025

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

2 January 2025

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https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2012.03.004

Protocadherin 19 mutations in girls with infantile-onset epilepsy

2 January 2025

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

2 January 2025

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PCDH19 mutation in Japanese females with epilepsy

2 January 2025

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

2 January 2025

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2 January 2025

Identifiers

1 reference

19 September 2017

1 reference