Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies
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DOI: 10.1002/mgg3.926
Abstract: The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that lowers seizure threshold and may also enhance epileptogenesis. In this study, three patients diagnosed with SZT2‐related developmental and epileptic encephalopathies (DEEs) were… read more here.
Keywords: novel szt2; epileptic encephalopathies; mutations three; szt2 mutations ... See more keywords