The spectrum of epilepsy and electroencephalographic abnormalities due toSHANK3loss-of-function mutations
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Title
The spectrum of epilepsy and electroencephalographic abnormalities due toSHANK3loss-of-function mutations
Authors
Keywords
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Journal
EPILEPSIA
Volume 57, Issue 10, Pages 1651-1659
Publisher
Wiley
Online
2016-08-24
DOI
10.1111/epi.13506
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Related references
Note: Only part of the references are listed.- Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
- (2016) F. Yi et al. SCIENCE
- Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators
- (2015) Lara J. Duffney et al. Cell Reports
- Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID
- (2015) Daniela M Cochoy et al. Molecular Autism
- Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome
- (2014) Sara M. Sarasua et al. HUMAN GENETICS
- De novo mutations in HCN1 cause early infantile epileptic encephalopathy
- (2014) Caroline Nava et al. NATURE GENETICS
- Seizures and EEG pattern in the 22q13.3 deletion syndrome: Clinical report of six Italian cases
- (2014) Maria Grazia Figura et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- Copy number variants in adult patients with Lennox–Gastaut syndrome features
- (2013) Caroline Lund et al. EPILEPSY RESEARCH
- Loss of Predominant Shank3 Isoforms Results in Hippocampus-Dependent Impairments in Behavior and Synaptic Transmission
- (2013) M. Kouser et al. JOURNAL OF NEUROSCIENCE
- NINDS epilepsy and autism spectrum disorders workshop report
- (2013) R. Tuchman et al. NEUROLOGY
- SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
- (2013) Catalina Betancur et al. Molecular Autism
- Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
- (2013) Latha Soorya et al. Molecular Autism
- Autism-Associated Mutations in ProSAP2/Shank3 Impair Synaptic Transmission and Neurexin-Neuroligin-Mediated Transsynaptic Signaling
- (2012) M. H. Arons et al. JOURNAL OF NEUROSCIENCE
- Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
- (2011) Fadi F. Hamdan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
- (2011) Xiaoming Wang et al. HUMAN MOLECULAR GENETICS
- Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
- (2011) João Peça et al. NATURE
- 22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH
- (2010) S.U. Dhar et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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