Early-onset progressive encephalopathy
Definition:
Early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS) is caused by mutations in TRAPPC12. Changes in Golgi morphology, membrane trafficking dysfunction, and mitotic delay were reported in fibroblasts of patients.Early-onset progressive encephalopathy with episodic rhabdomyolysis (PEERB) is caused by mutations in TRAPPC2L. Both TRAPPC2L and TRAPPC12 are members of the TRAPP protein complex, which functions in membrane trafficking.
References:
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[1]. Miroslav P Milev, et al. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. J Med Genet. 2018 Nov;55(11):753-764. [Content Brief]
[2]. Miroslav P Milev, et al. Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. Am J Hum Genet. 2017 Aug 3;101(2):291-299. [Content Brief]
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