(Q36744661)

16 August 2017

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. (English)

1 reference

16 August 2017

6

Cédric Howald

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Ronald Gregg

23

object named as

Ronald G Gregg

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16 August 2017

20

Alexandre Reymond

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16 August 2017

24

Stephen W Scherer

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16 August 2017

Orsetta Zuffardi

19

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Colleen A. Morris

9

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Carolyn B Mervis

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object named as

Carolyn B Mervis

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16 August 2017

16

Patrick Edery

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16 August 2017

Christian R Marshall

1

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16 August 2017

Edwin J Young

2

1 reference

16 August 2017

Ariel M Pani

3

1 reference

16 August 2017

Mary-Louise Freckmann

4

1 reference

16 August 2017

Yves Lacassie

5

1 reference

16 August 2017

Kristi K Fitzgerald

7

1 reference

16 August 2017

Maarit Peippo

8

1 reference

16 August 2017

Colleen A Morris

9

1 reference

16 August 2017

Kate Shane

10

1 reference

16 August 2017

Manuela Priolo

11

1 reference

16 August 2017

Masafumi Morimoto

12

1 reference

16 August 2017

Ikuko Kondo

13

1 reference

16 August 2017

Esra Manguoglu

14

1 reference

16 August 2017

Sibel Berker-Karauzum

15

1 reference

16 August 2017

Holly H Hobart

17

1 reference

16 August 2017

Paige Kaplan

21

1 reference

16 August 2017

May Tassabehji

22

1 reference

16 August 2017

Lucy R Osborne

25

1 reference

16 August 2017

language of work or name

English

0 references

publication date

19 June 2008

1 reference

American Journal of Human Genetics

16 August 2017

1 reference

16 August 2017

83

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16 August 2017

1

1 reference

16 August 2017

106-111

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Structural variation of chromosomes in autism spectrum disorder

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Synaptic scaffolding molecule alpha is a scaffold to mediate N-methyl-D-aspartate receptor-dependent RhoA activation in dendrites.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Infantile spasms: therapy and outcome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Detection of large-scale variation in the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Human chromosome 7: DNA sequence and biology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

The epidemiology of the epilepsies in children

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

West's syndrome (infantile spasms). Clinical description and diagnosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Long-term outcome of patients with West syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Three isoforms of synaptic scaffolding molecule and their characterization. Multimerization between the isoforms and their interaction with N-methyl-D-aspartate receptors and SAP90/PSD-95-associated protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Neurological manifestations of tuberous sclerosis complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Causes of epilepsy: contributions of the Rochester epidemiology project.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Patterns of seizures observed in association with neurofibromatosis 1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

A case with de novo interstitial deletion of chromosome 7q21.1-q22.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Mutational mechanisms of Williams-Beuren syndrome deletions

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Stargazer: a new neurological mutant on chromosome 15 in the mouse with prolonged cortical seizures.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

An interstitial deletion of chromosome 7 at band q21: a case report and review.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Infantile spasms in a patient with williams syndrome and craniosynostosis.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Magnetic resonance imaging findings in infantile spasms: etiologic and pathophysiologic aspects

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

A case of Williams syndrome with a large, visible cytogenetic deletion.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Long-term prognosis of seizures with onset in childhood.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443840

Heat shock protein 27 gene: chromosomal and molecular location and relationship to Williams syndrome

5 September 2018

1 reference

12 December 2020

Immunohistochemical analysis of brainstem lesions in infantile spasms

1 reference

12 December 2020

Two-year remission and subsequent relapse in children with newly diagnosed epilepsy

1 reference

12 December 2020

Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21

1 reference

12 December 2020

Ectrodactyly and proximal/intermediate interstitial deletion 7q

1 reference

12 December 2020

Rotavirus encephalitis mimicking afebrile benign convulsions in infants

1 reference

12 December 2020

Williams-Beuren syndrome and West "syndrome:" causal association or contiguous gene deletion syndrome?

1 reference

12 December 2020

Periventricular nodular heterotopia and Williams syndrome

1 reference

12 December 2020

10.1016/J.AJHG.2008.06.001

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

18565486

1 reference