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
Disorders of synaptic vesicle fusion machinery.
Melland H et al.
Journal of Neurochemistry, 2021
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies.
Alten B et al.
Neuron, 2021
Molecule-to-Circuit Disease Mechanisms of a Synaptic SNAREopathy.
Praschberger R et al.
Neuron, 2021
SNAP-25 Puts SNAREs at Center Stage in Metabolic Disease.
Irfan M et al.
Neuroscience, 2019
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.
Fukuda H et al.
Journal of Human Genetics, 2018
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017
Select a paper to view details