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PRICKLE1 ‐related early onset epileptic encephalopathy
Author(s) -
Mastrangelo Mario,
Tolve Manuela,
Martinelli Martina,
Di Noia Sofia P.,
Parrini Elena,
Leuzzi Vincenzo
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.40625
Subject(s) - polymicrogyria , agenesis of the corpus callosum , epilepsy , corpus callosum , ataxia , autism spectrum disorder , encephalopathy , medicine , global developmental delay , pediatrics , neuroscience , psychology , pathology , autism , biology , genetics , gene , psychiatry , phenotype
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.