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
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
32853554 (PubMed )
Supplement: mmc2.xlsx › S6
Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.
Vardar G et al.
Brain : a Journal of Neurology, 2020
Clinical spectrum of STX1B-related epileptic disorders.
Wolking S et al.
Neurology, 2019
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
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