IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Authors
Keywords
-
Journal
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
Publisher
Springer Nature America, Inc
Online
2018-09-10
DOI
10.1038/s41436-018-0268-1
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy
- (2017) Lisa J Ewans et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
- (2017) Seth I. Berger et al. HUMAN GENETICS
- Landscape of X chromosome inactivation across human tissues
- (2017) Taru Tukiainen et al. NATURE
- Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis
- (2017) S J Hinze et al. Translational Psychiatry
- De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
- (2016) Candace T. Myers et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rett-like phenotypes: expanding the genetic heterogeneity to theKCNA2gene and first familial case ofCDKL5-related disease
- (2016) L. Allou et al. CLINICAL GENETICS
- The molecular and phenotypic spectrum ofIQSEC2-related epilepsy
- (2016) Ayelet Zerem et al. EPILEPSIA
- A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability
- (2016) Irene Madrigal et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Subunit-selectiveN-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation
- (2016) Mohammad Nael Elagabani et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Genetic and neurodevelopmental spectrum ofSYNGAP1-associated intellectual disability and epilepsy
- (2016) Cyril Mignot et al. JOURNAL OF MEDICAL GENETICS
- IQSEC2 and X-linked syndromal intellectual disability
- (2016) Aaron F. Alexander-Bloch et al. PSYCHIATRIC GENETICS
- Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
- (2016) Carolien G.F. de Kovel et al. Molecular Genetics & Genomic Medicine
- Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome
- (2015) Heather E. Olson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Syngap1 Haploinsufficiency Damages a Postnatal Critical Period of Pyramidal Cell Structural Maturation Linked to Cortical Circuit Assembly
- (2015) Massimiliano Aceti et al. BIOLOGICAL PSYCHIATRY
- X-chromosome inactivation: new insights into cis and trans regulation
- (2015) Rafael Galupa et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Next-generation sequencing in X-linked intellectual disability
- (2015) Andreas Tzschach et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Gateways to the FANTOM5 promoter level mammalian expression atlas
- (2015) Marina Lizio et al. GENOME BIOLOGY
- Variable escape from X-chromosome inactivation: Identifying factors that tip the scales towards expression
- (2014) Samantha B. Peeters et al. BIOESSAYS
- Genome sequencing identifies major causes of severe intellectual disability
- (2014) Christian Gilissen et al. NATURE
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses
- (2012) James P. Clement et al. CELL
- PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder
- (2012) Christel Depienne et al. HUMAN MUTATION
- A cross-species comparison of escape from X inactivation in Eutheria: implications for evolution of X chromosome inactivation
- (2011) Shafagh Al Nadaf et al. CHROMOSOMA
- Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
- (2010) Cheryl Shoubridge et al. NATURE GENETICS
- The postsynaptic density protein, IQ-ArfGEF/BRAG1, can interact with IRSp53 through its proline-rich sequence
- (2008) Masashi Sanda et al. BRAIN RESEARCH
- IQ-ArfGEF/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses
- (2007) Hiroyuki Sakagami et al. NEUROSCIENCE RESEARCH
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More