Genes, Volume 15, Issue 3
2024 March - 131 articles
Cover Story: Infantile epileptic spasms syndrome (IESS) is a devastating developmental epileptic encephalopathy (DEE) consisting of epileptic spasms, developmental regression/stagnation, and hypsarrhythmia on EEG. A myriad of aetiologies are associated with IESS; approximately 40% of cases are genetic. Over 28 copy number variants and 70 single-gene pathogenic variants related to IESS have been discovered. Understanding the genetic mechanisms of IESS may provide the opportunity to discern IESS pathophysiology better and improve treatments. This review presents an overview of our current understanding of IESS genetics, emphasizing animal models of IESS pathogenesis, the spectrum of genetic aetiologies of IESS, and available genetic testing methods and their diagnostic yields. Future opportunities for precision medicine and epilepsy genetics in IESS treatment are explored. View this paper - Issues are regarded as officially published after their release is announced to the table of contents alert mailing list .
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