Hyperekplexia and epilepsy
Definition:
Hyperekplexia and epilepsy is also known as early infantile epileptic encephalopathy 8 (EIEE8) [DS:H00606]. It is an X-linked mental retardation and sensory hyperarousal, caused by mutations in ARHGEF9. Collybistin, encoded by ARHGEF9, is a RhoGEF family protein and highly expressed in the developing and adult brain.
References:
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[1]. E J Marco, et al. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. J Med Genet. 2008 Feb;45(2):100-5. [Content Brief]
[2]. Keiko Shimojima, et al. Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. J Hum Genet. 2011 Aug;56(8):561-5. [Content Brief]
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