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 CASE REPORT
Year : 2021  |  Volume : 16  |  Issue : 4  |  Page : 289-292

The dysfunctional gangway: SZT2-associated epilepsy with thick corpus callosum


1 Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Trivandrum, Kerala, India
2 Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Trivandrum, Kerala, India

Correspondence Address:
Dr. Kalikavil Puthanveedu Divya
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Medical College P.O., Trivandrum 695011, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_128_20

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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.






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