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
Department of Neurology, Children's National Medical Center, Washington, DC.
Department of Neuroradiology, The George Washington University School of Medicine, Washington, DC.
Am J Med Genet A. 2018 Jun;176(6):1443-1448. doi: 10.1002/ajmg.a.38717. Epub 2018 Apr 25.
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.
早发性癫痫性脑病（EOEEs）是一组遗传异质性的严重癫痫，常伴有精神运动发育倒退。SZT2是一种已知的癫痫发作阈值调节基因，其突变是EOEE新发现的病因。我们报告了一名患有EOEE、巨头畸形和发育倒退的个体，通过全外显子组测序确定其SZT2基因存在复合杂合突变。系列影像学检查发现了中枢性髓鞘进行性丢失这一新颖的表现。该病例扩展了我们对SZT2表型的临床认识，并强调了该基因在EOEE和白质脑病诊断研究中的作用。
