PRICKLE1‐related early onset epileptic encephalopathy. Issue 12 (22nd October 2018)

• Record Type: Journal Article
• Authors: Mastrangelo, Mario; Tolve, Manuela; Martinelli, Martina; Di Noia, Sofia P.; Parrini, Elena; Leuzzi, Vincenzo
• Is Part Of: American journal of medical genetics. Volume 176:Issue 12(2018)
• Page Start: 2841
• Page End: 2845
• Publication Date: 2018-10-22
• Subjects: epileptic encephalopathy -- genetic epilepsy -- intellectual disability -- progressive myoclonus epilepsy; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.40625
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : The PRICKLE1 (Prickle Planar Cell Polarity Protein 1‐MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy ‐ ataxia syndrome, neural tube defects associated with heterozygous mutations, agenesis of corpus callosum, polymicrogyria, and autistic spectrum disorder. Reported here is a young boy with a new variant (NM_153026.2:c.820G>A, p.Ala274Thr) presenting with an early infantile epileptic encephalopathy with developmental arrest.