Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. (Q38779251)

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11 March 2020

title

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy (English)

1 reference

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disability affecting intellectual abilities

11 March 2020

main subject

disability

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intellectual disability

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based on heuristic

inferred from title

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27

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11 March 2020

Damien Sanlaville

5

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11 March 2020

Elżbieta Szczepanik

13

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11 March 2020

Anita Rauch

24

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11 March 2020

Christiane Zweier

25

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11 March 2020

Bridget H Maher

32

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11 March 2020

Sarah Weckhuysen

36

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11 March 2020

38

Heather C Mefford

1 reference

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11 March 2020

43

Delphine Héron

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11 March 2020

author name string

Cyril Mignot

1

1 reference

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11 March 2020

Celina von Stülpnagel

2

1 reference

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11 March 2020

Caroline Nava

3

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11 March 2020

Dorothée Ville

4

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11 March 2020

Gaetan Lesca

6

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11 March 2020

Agnès Rastetter

7

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11 March 2020

Benoit Gachet

8

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11 March 2020

Yannick Marie

9

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11 March 2020

G Christoph Korenke

10

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11 March 2020

Ingo Borggraefe

11

1 reference

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11 March 2020

Dorota Hoffmann-Zacharska

12

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11 March 2020

Mariola Rudzka-Dybała

14

1 reference

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11 March 2020

Uluç Yiş

15

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11 March 2020

Hande Çağlayan

16

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11 March 2020

Arnaud Isapof

17

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11 March 2020

Isabelle Marey

18

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11 March 2020

Eleni Panagiotakaki

19

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11 March 2020

Christian Korff

20

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11 March 2020

Eva Rossier

21

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11 March 2020

Angelika Riess

22

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11 March 2020

Stefanie Beck-Woedl

23

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11 March 2020

Juliane Hoyer

26

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11 March 2020

Mikhail Mironov

28

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11 March 2020

Maria Bobylova

29

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11 March 2020

Konstantin Mukhin

30

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11 March 2020

Laura Hernandez-Hernandez

31

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11 March 2020

Sanjay Sisodiya

33

1 reference

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11 March 2020

Marius Kuhn

34

1 reference

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11 March 2020

Dieter Glaeser

35

1 reference

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11 March 2020

Candace T Myers

37

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11 March 2020

Konstanze Hörtnagel

39

1 reference

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11 March 2020

Saskia Biskup

40

1 reference

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11 March 2020

EuroEPINOMICS-RES MAE working group

41

1 reference

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11 March 2020

Johannes R Lemke

42

1 reference

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11 March 2020

Gerhard Kluger

44

1 reference

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11 March 2020

Christel Depienne

45

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11 March 2020

language of work or name

English

0 references

publication date

17 March 2016

1 reference

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Journal of Medical Genetics

11 March 2020

published in

1 reference

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11 March 2020

volume

53

1 reference

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11 March 2020

issue

8

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11 March 2020

page(s)

511-522

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SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family

11 March 2020

cites work

1 reference

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A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II

21 January 2018

1 reference

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SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation

21 January 2018

1 reference

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Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses

21 January 2018

1 reference

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Reduced expression of the NMDA receptor-interacting protein SynGAP causes behavioral abnormalities that model symptoms of Schizophrenia

21 January 2018

1 reference

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Disruption of hippocampus-regulated behavioural and cognitive processes by heterozygous constitutive deletion of SynGAP.

21 January 2018

1 reference

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Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly

21 January 2018

1 reference

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SynGAP isoforms exert opposing effects on synaptic strength

21 January 2018

1 reference

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A de novo paradigm for mental retardation

21 January 2018

1 reference

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

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Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

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De novo mutations in epileptic encephalopathies

21 January 2018

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A polygenic burden of rare disruptive mutations in schizophrenia

21 January 2018

1 reference

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

21 January 2018

1 reference

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Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

21 January 2018

1 reference

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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

21 January 2018

1 reference

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

21 January 2018

1 reference

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Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

21 January 2018

1 reference

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Recurrent de novo mutations implicate novel genes underlying simplex autism risk

21 January 2018

1 reference

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De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

21 January 2018

1 reference

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De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

21 January 2018

1 reference

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SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.

21 January 2018

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Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

21 January 2018

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Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

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De novo mutations in HCN1 cause early infantile epileptic encephalopathy

21 January 2018

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Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

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Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

21 January 2018

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First seizures associated with playing electronic screen games: a community-based study in Great Britain

21 January 2018

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Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

21 January 2018

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Activity-dependent neuronal signalling and autism spectrum disorder

21 January 2018

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Sensitive and critical periods during neurotypical and aberrant neurodevelopment: a framework for neurodevelopmental disorders

21 January 2018

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A balanced translocation disruptsSYNGAP1in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

21 January 2018

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10.1136/JMEDGENET-2015-103451

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26989088 AND SRC:MED&resulttype=core&format=json

11 March 2020

1 reference