We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
The dysfunctional gangway: SZT2-associated epilepsy with thick corpus callosum.
- Authors
Cherian, Ajith; Divya, Kalikavil; Pavuluri, Harini; Thomas, Bejoy
- Abstract
Mutations in seizure threshold 2 (SZT2) gene on chromosome 1p34.2 are an of late identified cause of epilepsy and epileptic encephalopathy. We report a 3-year-old girl who presented with developmental delay, dysmorphic facies, refractory seizures, and subsequent developmental regression. Despite significant multifocal epileptiform abnormalities on her electroencephalogram, she had a paucity of generalized discharges indicating a functional deficiency of corpus callosum inspite of its increased thickness seen on magnetic resonance imaging. Her clinical exome sequencing revealed a homozygous single base pair duplication in the SZT2 gene that resulted in a frameshift mutation and premature truncation of the protein. Our case emphasizes the role of SZT2 gene in the diagnostic algorithm of early childhood refractory epilepsy especially in the context of a thick yet dysfunctional corpus callosum.
- Subjects
DIAGNOSIS of epilepsy; GENETICS of epilepsy; GENETIC mutation; ELECTROENCEPHALOGRAPHY; SEQUENCE analysis; HUMAN genome; DEVELOPMENTAL disabilities; MAGNETIC resonance imaging; TELENCEPHALON; EPILEPTIFORM discharges; PEOPLE with intellectual disabilities; ALGORITHMS; CHILDREN
- Publication
Journal of Pediatric Neurosciences, 2021, Vol 16, Issue 4, p289
- ISSN
1817-1745
- Publication type
Article
- DOI
10.4103/jpn.JPN_128_20