(Q38075436)

English

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

scientific article published on 20 January 2013

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

autism spectrum disorder

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author name string

J J T van Harssel

1

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Europe PubMed Central

PubMed publication ID

28 August 2017

S Weckhuysen

2

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Europe PubMed Central

PubMed publication ID

28 August 2017

M J A van Kempen

3

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Europe PubMed Central

PubMed publication ID

28 August 2017

K Hardies

4

1 reference

Europe PubMed Central

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28 August 2017

N E Verbeek

5

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Europe PubMed Central

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28 August 2017

C G F de Kovel

6

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Europe PubMed Central

PubMed publication ID

28 August 2017

W B Gunning

7

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Europe PubMed Central

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28 August 2017

E van Daalen

8

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Europe PubMed Central

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28 August 2017

M V de Jonge

9

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Europe PubMed Central

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28 August 2017

A C Jansen

10

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Europe PubMed Central

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28 August 2017

R J Vermeulen

11

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Europe PubMed Central

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28 August 2017

W F M Arts

12

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Europe PubMed Central

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28 August 2017

H Verhelst

13

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Europe PubMed Central

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28 August 2017

A Fogarasi

14

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Europe PubMed Central

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28 August 2017

J F de Rijk-van Andel

15

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Europe PubMed Central

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28 August 2017

A Kelemen

16

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Europe PubMed Central

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28 August 2017

D Lindhout

17

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Europe PubMed Central

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28 August 2017

P De Jonghe

18

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Europe PubMed Central

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28 August 2017

B P C Koeleman

19

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Europe PubMed Central

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28 August 2017

A Suls

20

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Europe PubMed Central

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28 August 2017

E H Brilstra

21

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Europe PubMed Central

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28 August 2017

publication date

20 January 2013

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Europe PubMed Central

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28 August 2017

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Europe PubMed Central

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28 August 2017

14

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28 August 2017

1

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28 August 2017

23-34

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28 August 2017

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

PCDH19 mutation in Japanese females with epilepsy

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

A novel PCDH19 mutation inherited from an unaffected mother

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

Amino acid difference formula to help explain protein evolution

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

Dravet syndrome: the long-term outcome

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

Early clinical features in Dravet syndrome patients with and without SCN1A mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0353-1

21 January 2018

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://pubmed.ncbi.nlm.nih.gov/23334464

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe myoclonic epilepsy in infancy and carbamazepine

1 reference

https://pubmed.ncbi.nlm.nih.gov/23334464

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism as a basic epileptogenic mechanism?

1 reference

https://pubmed.ncbi.nlm.nih.gov/23334464

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23334464

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-013-0353-1

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

ResearchGate publication ID

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