Electroclinical findings of SYNJ1 epileptic encephalopathy

Conclusion: This is a newly described early-onset epileptic encephalopathy secondary to a critical reduction of the dual phosphatase activity of SYNJ. Clinical features include early-onset intractable focal, myoclonic seizures, infantile spasms, and hypotonia progressing to spastic quadriparesis, opisthotonus, dystonia, profound developmental delay, and a progressive neurodegenerative course. Brain magnetic resonance imaging is usually normal. Electroencephalography shows diffuse slowing with multifocal epileptiform discharges or modified hypsarrhythmia. These findings further expand the clinical spectrum of synaptic dysregulation in patients with severe epilepsy and emphasize the importance of this biological pathway in seizure pathophysiology.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research