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- W2896971868 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." @default.
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- W2896971868 date "2018-10-22" @default.
- W2896971868 modified "2023-10-18" @default.
- W2896971868 title "<i>PRICKLE1</i> -related early onset epileptic encephalopathy" @default.
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- W2896971868 doi "https://doi.org/10.1002/ajmg.a.40625" @default.
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