Associated Papers
Treating seizures in SYN1-related epilepsy: a systematic review.
Van Boxstael E et al.
Seizure, 2025
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
The epilepsy-autism spectrum disorder phenotype in the era of molecular genetics and precision therapy.
Specchio N et al.
Epilepsia, 2022
Alterations of presynaptic proteins in autism spectrum disorder.
Yeo XY et al.
Frontiers in Molecular Neuroscience, 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
SYN1 Mutation Causes X-Linked Toothbrushing Epilepsy in a Chinese Family.
Zhou Q et al.
Frontiers in Neurology, 2021
Effects of SYN1Q555X mutation on cortical gray matter microstructure.
Cabana JF et al.
Human Brain Mapping, 2018
The Role of Synapsins in Neurological Disorders.
Mirza FJ et al.
Neuroscience Bulletin, 2018
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
Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity.
Gilbert J et al.
Frontiers in Cellular Neuroscience, 2017
X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.
Nguyen DK et al.
Epilepsia, 2015
Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins.
Giovedí S et al.
Frontiers in Pediatrics, 2014
Synaptic proteins and receptors defects in autism spectrum disorders.
Chen J et al.
Frontiers in Cellular Neuroscience, 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
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.
Paemka L 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
Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders.
Pescosolido MF et al.
Dialogues in Clinical Neuroscience, 2012
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Fassio A et al.
Human Molecular Genetics, 2011