PRICKLE1-related early onset epileptic encephalopathy

Mario Mastrangelo; Manuela Tolve; Martina Martinelli; Sofia P Di Noia; Elena Parrini; Vincenzo Leuzzi

doi:10.1002/ajmg.a.40625

PRICKLE1-related early onset epileptic encephalopathy

Am J Med Genet A. 2018 Dec;176(12):2841-2845. doi: 10.1002/ajmg.a.40625. Epub 2018 Oct 22.

Authors

Mario Mastrangelo¹, Manuela Tolve², Martina Martinelli¹, Sofia P Di Noia¹, Elena Parrini³, Vincenzo Leuzzi¹

Affiliations

¹ Department of Human Neuroscience, "Sapienza, University of Rome", Rome, Italy.
² Department of Experimental Medicine, "Sapienza, University of Rome", Rome, Italy.
³ Neuroscience and Neurogenetics Department, Meyer Children's Hospital, University of Florence, Florence, Italy.

PMID: 30345727
DOI: 10.1002/ajmg.a.40625

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.

Keywords: epileptic encephalopathy; genetic epilepsy; intellectual disability; progressive myoclonus epilepsy.

Publication types

Case Reports

MeSH terms

Child, Preschool
DNA Mutational Analysis
Electroencephalography
Genetic Association Studies*
Genetic Predisposition to Disease*
Genotype
Humans
LIM Domain Proteins / genetics*
Male
Mutation
Pedigree
Phenotype
Spasms, Infantile / diagnosis*
Spasms, Infantile / genetics*
Tumor Suppressor Proteins / genetics*

Substances

LIM Domain Proteins
PRICKLE1 protein, human
Tumor Suppressor Proteins

Supplementary concepts

Infantile Epileptic-Dyskinetic Encephalopathy