Variants in the SIK1 gene were identified in six unrelated individuals presenting with developmental epilepsies; three subjects presenting with infantile spasms subsequently developed intractable epilepsy and an autism plus developmental disorder with absent speech, impaired socialization, and repetitive behaviors (Hansen et al., 2015).
Molecular Function
This gene encodes a serine/threonine-protein kinase involved in various processes such as cell cycle regulation, gluconeogenesis and lipogenesis regulation, muscle growth and differentiation and tumor suppression. It plays several roles in the central nervous system including regulation of the circadian clock (Jagannath et al., 2013) and transcription of corticotropin-releasing hormone in the hypothalamus (Liu et al., 2012).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
