Associated Papers
Systematic discovery of protein interaction interfaces using AlphaFold and experimental validation.
Lee CY et al.
Molecular Systems Biology, 2024
Genetic disorders of neurotransmitter release machinery.
Uzay B et al.
Frontiers in Synaptic Neuroscience, 2023
Vesicle trafficking with snares: a perspective for autism.
Özdemir Ç et al.
Molecular Biology Reports, 2022
Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing.
Michetti C et al.
Neurobiology of Disease, 2022
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
Disorders of synaptic vesicle fusion machinery.
Melland H et al.
Journal of Neurochemistry, 2021
Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.
Vardar G et al.
Brain : a Journal of Neurology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Clinical spectrum of STX1B-related epileptic disorders.
Wolking S et al.
Neurology, 2019
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J et al.
Nature Genetics, 2014
Synaptopathies Heat Up: Mutations in STX1B in Fever-Associated Epilepsies.
Kearney JA
Epilepsy Currents, 0
Select a paper to view details