Associated Papers
Genetic disorders of neurotransmitter release machinery.
Uzay B et al.
Frontiers in Synaptic Neuroscience, 2023
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
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
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