Epilepsy in patients with Angelman syndrome (Q37732476)

22 August 2017

8 references

14 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

6 July 2020

22 January 2024

Epilepsy in patients with Angelman syndrome (English)

1 reference

22 August 2017

7 references

14 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

6 July 2020

7 references

14 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

6 July 2020

1 reference

14 September 2019

Agata Fiumara

1

1 reference

22 August 2017

Annarita Pittalà

series ordinal

2

1 reference

22 August 2017

Mariadonatella Cocuzza

series ordinal

3

1 reference

22 August 2017

Giovanni Sorge

series ordinal

4

1 reference

22 August 2017

language of work or name

1 reference

16 April 2010

9 references

Italian Journal of Paediatrics

22 August 2017

14 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

6 July 2020

22 January 2024

9 references

22 August 2017

14 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

6 July 2020

22 January 2024

36

1 reference

22 August 2017

31

1 reference

Creative Commons Attribution 2.0 Generic

22 August 2017

8 references

14 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

6 July 2020

on focus list of Wikimedia project

22 January 2024

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Angelman syndrome: current understanding and research prospects.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Myoclonic status in nonprogressive encephalopathies: an update

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Epilepsy in Angelman syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Angelman syndrome: is there a characteristic EEG?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

UBE3A/E6-AP mutations cause Angelman syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

The 'happy puppet' syndrome of Angelman: review of the clinical features

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Uniparental paternal disomy in Angelman's syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Molecular and clinical study of 61 Angelman syndrome patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Angelman syndrome: correlations between epilepsy phenotypes and genotypes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

A syndrome of mental retardation, wide mouth and intermittent overbreathing

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Benefit of corticosteroid therapy in Angelman syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Angelman syndrome: difficulties in EEG pattern recognition and possible misinterpretations.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

High-dose ethosuximide for epilepsy in Angelman syndrome: implication of GABA(A) receptor subunit

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Efficacy of different antiepileptic drugs in children with Angelman syndrome associated with 15q11-13 deletion: the Danish experience.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Diagnosis of Angelman syndrome: clinical and EEG criteria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Imprinting in Prader-Willi and Angelman syndromes

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Epilepsy in Angelman syndrome associated with chromosome 15q deletion

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865483

Topiramate therapy of epilepsy associated with Angelman's syndrome

1 September 2018

1 reference

12 December 2020

Another Rett patient with a typical Angelman EEG

1 reference

12 December 2020

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome

1 reference

12 December 2020

Seizure and EEG patterns in Angelman's syndrome

1 reference

12 December 2020

Evolution of epilepsy and EEG findings in Angelman syndrome

1 reference

12 December 2020

Lamotrigine therapy of epilepsy with Angelman's syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1186/1824-7288-36-31

1 reference

Dimensions Publication ID

22 August 2017

0 references

1 reference

22 August 2017

PubMed publication ID

20398390

1 reference