| Literature DB >> 30345727 |
Mario Mastrangelo1, Manuela Tolve2, Martina Martinelli1, Sofia P Di Noia1, Elena Parrini3, Vincenzo Leuzzi1.
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.Entities:
Keywords: epileptic encephalopathy; genetic epilepsy; intellectual disability; progressive myoclonus epilepsy
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Year: 2018 PMID： 30345727 DOI： 10.1002/ajmg.a.40625
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802