Electroclinical Findings of SYNJ1 Epileptic Encephalopathy.

ABSTRACT:

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

SUBMITTER: Samanta D 

PROVIDER: S-EPMC7227754 | biostudies-literature | 2020 Jan-Mar

REPOSITORIES: biostudies-literature