(Q50343349)

5 March 2018

http://europepmc.org/abstract/MED/24502430

title

A survey of seizures and current treatments in 15q duplication syndrome. (English)

1 reference

5 March 2018

http://europepmc.org/abstract/MED/24502430

author

Orrin Devinsky

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Janine M. LaSalle

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Lawrence T Reiter

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Kerry D Conant

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Brenda Finucane

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Nicole Cleary

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Ashley Martin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Candace Muss

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Mary Delany

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Erin K Murphy

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Olivia Rabe

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Kadi Luchsinger

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Sarah J Spence

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Carolyn Schanen

11

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Ronald L Thibert

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Edwin H Cook

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

publication date

6 February 2014

1 reference

5 March 2018

http://europepmc.org/abstract/MED/24502430

published in

Epilepsia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

396-402

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24502430%20AND%20SRC:MED&resulttype=core&format=json

Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.

4 June 2020

cites work

1 reference

Epilepsy and the new cytogenetics

21 January 2018

1 reference

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

21 January 2018

1 reference

Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity

21 January 2018

1 reference

Autism and maternally derived aberrations of chromosome 15q.

21 January 2018

1 reference

Rearrangements of chromosome 15 in epilepsy

21 January 2018

1 reference

Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.

21 January 2018

1 reference

The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.

21 January 2018

1 reference

Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.

21 January 2018

1 reference

Epigenetics of autism spectrum disorders

21 January 2018

1 reference

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature

21 January 2018

1 reference

Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder.

21 January 2018

1 reference

15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders

21 January 2018

1 reference

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

21 January 2018

1 reference

Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples

21 January 2018

1 reference

Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder

21 January 2018

1 reference

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

21 January 2018

1 reference

A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes.

21 January 2018

1 reference

Mild generalized epilepsy and developmental disorder associated with large inv dup(15).

21 January 2018

1 reference

Inv dup (15): is the electroclinical phenotype helpful for this challenging clinical diagnosis?

21 January 2018

1 reference

Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes

21 January 2018

1 reference

MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression

21 January 2018

1 reference

Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.

21 January 2018

1 reference

Angelman syndrome 2005: updated consensus for diagnostic criteria.

21 January 2018

1 reference

Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15.

21 January 2018

1 reference

The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.

21 January 2018

1 reference

The behavioral phenotype of the idic(15) syndrome.

21 January 2018

1 reference

The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings.

21 January 2018

1 reference

Maternal origin of inv dup(15) chromosomes in infantile autism.

21 January 2018

1 reference

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

21 January 2018

1 reference

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

21 January 2018

1 reference

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

21 January 2018

1 reference

The Early Childhood Epilepsy Severity Scale (E-Chess).

21 January 2018

1 reference

Autism and epilepsy: historical perspective

21 January 2018

1 reference

The natural history of epilepsy in tuberous sclerosis complex

21 January 2018

1 reference

Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism

21 January 2018

1 reference

Effectiveness of first antiepileptic drug.

21 January 2018

1 reference