Mutations in seizure threshold 2 () 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 gene that resulted in a frameshift mutation and premature truncation of the protein. Our case emphasizes the role of 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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757505PMC
http://dx.doi.org/10.4103/jpn.JPN_128_20DOI Listing

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