home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 338      Small font sizeDefault font sizeIncrease font size Print this page Email this page
 CASE REPORT
Year : 2020  |  Volume : 15  |  Issue : 1  |  Page : 29-33

Electroclinical findings of SYNJ1 epileptic encephalopathy


Child Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences (UAMS), Little Rock, AR, USA

Correspondence Address:
Dr. Debopam Samanta
Child Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences (UAMS), 1 Children’s Way, Little Rock, AR 72202.
USA
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_10_19

Rights and Permissions

Introduction: Early-onset epileptic encephalopathies are among the most severe early-onset epilepsies, leading to progressive neurodegeneration. An increasing number of novel genetic causes continue to be uncovered as the primary etiology. Results: We report a girl infant of Semitic (Saudi Arabian) descent who presented with multifocal seizures and later developed intractable infantile spasms and myoclonic seizures. Her clinical features and electroencephalography were consistent with early-onset epileptic encephalopathy. Whole exome sequence analysis showed homozygous novel pathogenic variant (variant p.Q287PfsX27; coding DNA c.858_862delACAAA) in the SYNJ1 gene. 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.






[FULL TEXT] [PDF]*


        
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed413    
    Printed32    
    Emailed0    
    PDF Downloaded20    
    Comments [Add]    

Recommend this journal