Mutations in SZT2 result in early‐onset epileptic encephalopathy and leukoencephalopathy. Issue 6 (25th April 2018)

• Record Type: Journal Article
• Authors: Pizzino, Amy; Whitehead, Matthew; Sabet Rasekh, Parisa; Murphy, Jennifer; Helman, Guy; Bloom, Miriam; Evans, Sarah H.; Murnick, John G.; Conry, Joan; Taft, Ryan J.; Simons, Cas; Vanderver, Adeline; Adang, Laura A.
• Is Part Of: American journal of medical genetics. Volume 176:Issue 6(2018)
• Page Start: 1443
• Page End: 1448
• Publication Date: 2018-04-25
• Subjects: early‐onset epileptic encephalopathy -- leukoencephalopathy -- myelination -- SZT2 -- whole exome sequencing; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38717
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Early‐onset epileptic encephalopathies (EOEEs) are a genetically heterogeneous collection of severe epilepsies often associated with psychomotor regression. Mutations in SZT2, a known seizure threshold regulator gene, are a newly identified cause of EOEE. We present an individual with EOEE, macrocephaly, and developmental regression with compound heterozygous mutations in SZT2 as identified by whole exome sequencing. Serial imaging characterized the novel finding of progressive loss of central myelination. This case expands our clinical understanding of the SZT2 ‐phenotype and emphasizes the role of this gene in the diagnostic investigation for EOEE and leukoencephalopathies.