Associated Papers
SYN1 variant causes X-linked neurodevelopmental disorders: a case report of variable clinical phenotypes in siblings.
Ren B et al.
Frontiers in Neurology, 2024
Ca2+ binding to synapsin I regulates resting Ca2+ and recovery from synaptic depression in nerve terminals.
Moschetta M et al.
Cellular and Molecular Life Sciences : Cmls, 2022
The different clinical facets of SYN1-related neurodevelopmental disorders.
Parenti I et al.
Frontiers in Cell and Developmental Biology, 2022
An updated reappraisal of synapsins: structure, function and role in neurological and psychiatric disorders.
Longhena F et al.
Neuroscience and Biobehavioral Reviews, 2021
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.
Accogli A et al.
Neurology, 2021
Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.
Xiong J et al.
Bmc Medical Genomics, 2021
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.
Guarnieri FC et al.
Human Molecular Genetics, 2017
Autism, epilepsy, and synaptopathies: a not rare association.
Keller R et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017
Genetics, molecular biology, and phenotypes of x-linked epilepsy.
Deng H et al.
Molecular Neurobiology, 2014
Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins.
Giovedí S et al.
Frontiers in Pediatrics, 2014
Autism-related behavioral abnormalities in synapsin knockout mice.
Greco B et al.
Behavioural Brain Research, 2013
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.
Lignani G et al.
Human Molecular Genetics, 2013
Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.
Giannandrea M et al.
Plos One, 2013
The C allele of synonymous SNP (rs1142636, Asn170Asn) in SYN1 is a risk factor for the susceptibility of Korean female schizophrenia.
Yu GI et al.
Synapse (new York, N.y.), 2012
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Fassio A et al.
Human Molecular Genetics, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.
Garcia CC et al.
Journal of Medical Genetics, 2004