关键词： SZT2 early-onset epileptic encephalopathy leukoencephalopathy myelination whole exome sequencing

Mesh ： Amino Acid Transport Systems, Acidic / deficiency genetics Antiporters / deficiency genetics Child, Preschool Developmental Disabilities / genetics Female Hereditary Central Nervous System Demyelinating Diseases / diagnostic imaging etiology genetics Heterozygote Humans Infant Leukoencephalopathies / diagnostic imaging etiology genetics Magnetic Resonance Imaging Megalencephaly / diagnostic imaging genetics Mitochondrial Diseases / diagnostic imaging etiology genetics Mutation Nerve Tissue Proteins / genetics Psychomotor Disorders / diagnostic imaging etiology genetics Spasms, Infantile / diagnostic imaging etiology genetics

来  源：   DOI：10.1002/ajmg.a.38717   PDF(Pubmed)

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.
摘要：
早发性癫痫性脑病（EOEEs）是严重癫痫的遗传异质性集合，通常与精神运动消退有关。SZT2的突变，一种已知的癫痫阈值调节基因，是新发现的EOEE原因。我们向一个人展示了EOEE，大头畸形,以及通过全外显子组测序鉴定的SZT2中复合杂合突变的发育回归。连续成像表征了中央髓鞘逐渐丧失的新发现。此病例扩展了我们对SZT2表型的临床理解，并强调了该基因在EOEE和白质脑病的诊断研究中的作用。
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