encephalopathy: A distinctive generalized developmental and epileptic encephalopathy (Q61450426)

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14 April 2020

title

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy (English)

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3

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Davide Mei

4

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14 April 2020

Martino Montomoli

5

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14 April 2020

Mark F Bennett

8

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14 April 2020

Federico Sicca

21

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14 April 2020

Michael S. Hildebrand

24

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28

Ingrid E Scheffer

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27

Renzo Guerrini

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25

Heather C Mefford

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19

Samuel F Berkovic

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14 April 2020

13

Grazia M S Mancini

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22

G Christoph Korenke

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7

Candace T Myers

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1

Danique R M Vlaskamp

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14 April 2020

author name string

Benjamin J Shaw

2

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Han Xie

6

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14 April 2020

Wenshu XiangWei

9

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Danielle Williams

10

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Saskia M Maas

11

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Alice S Brooks

12

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Ingrid M B H van de Laar

14

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Johanna M van Hagen

15

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Tyson L Ware

16

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Richard I Webster

17

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Stephen Malone

18

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Renate M Kalnins

20

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Conny M A van Ravenswaaij-Arts

23

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Yuwu Jiang

26

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language of work or name

English

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publication date

12 December 2018

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14 April 2020

volume

92

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14 April 2020

page(s)

e96-e107

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14 April 2020

issue

2

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Nosological Problems of Myoclonic Epilepsies in Childhood and Adolescence

14 April 2020

cites work

1 reference

12 December 2020

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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12 December 2020

Validation of a questionnaire for clinical seizure diagnosis

1 reference

12 December 2020

Centrencephalic Myoclonic-Astatic Petit Mal1– Clinical and genetic investigations

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Severe myoclonic epilepsy in infants--a review based on the Tokyo Women's Medical University series of 84 cases

1 reference

12 December 2020

SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor

1 reference

12 December 2020

Eyelid myoclonia with absences: an overlooked epileptic syndrome?

1 reference

12 December 2020

The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity

1 reference

12 December 2020

The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome

1 reference

12 December 2020

Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology

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12 December 2020

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

1 reference

12 December 2020

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

1 reference

12 December 2020

A study of 63 cases with eyelid myoclonia with or without absences: type of seizure or an epileptic syndrome?

1 reference

12 December 2020

Eyelid myoclonia with absences (Jeavons syndrome): a well-defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions?

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

1 reference

12 December 2020

A de novo paradigm for mental retardation.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnostic exome sequencing in persons with severe intellectual disability

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Family studies of individuals with eyelid myoclonia with absences

1 reference

12 December 2020

6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment

1 reference

12 December 2020

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

1 reference

12 December 2020

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

1 reference

12 December 2020

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

1 reference

12 December 2020

UniProt: a hub for protein information

1 reference

12 December 2020

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

1 reference

12 December 2020

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Preliminary neurocognitive outcomes in Jeavons syndrome.

1 reference

12 December 2020

SYNGAP1: Mind the Gap

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12 December 2020

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

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12 December 2020

Analysis of protein-coding genetic variation in 60,706 humans

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12 December 2020

Expansion of the RASopathies

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12 December 2020

Prevalence and architecture of de novo mutations in developmental disorders

1 reference

12 December 2020

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

1 reference

12 December 2020

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

1 reference

12 December 2020

10.1212/WNL.0000000000006729

Identifiers

DOI

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14 April 2020

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