Snap25 Foundation

Research

Recent publications

There are several researchers around the world that are interested in finding out more about SNAP25. It is very important to keep studying Snap25 to be able to find targeted treatments and a cure.

Uzay, Kavalali: Genetic disorders of neurotransmitter release machinery

Kadkova, Sorensen et al: SNAP25 disease mutations change the energy landscape for synaptic exocytosis due to aberrant SNARE interactions

Alten et al: Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies

Klockner, Platzer et al: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Gordon et al: Disorders of synaptic vesicle fusion machinery

Heyne, Singh, Stamberger, et al: De novo variants in neurodevelopmental disorders with epilepsy

Fukuda et al: A novel Missense Snap25b Mutation in Two Affected Siblings from an Israeli Family Showing Seizures and Cerebellar Ataxia

Shen et al: Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

Rohena et al: Mutation in SNAP25 as a Novel Genetic Cause of Epilepsy and Intellectual Disability

Reynolds et al: Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome