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PRICKLE1-related early onset epileptic encephalopathy. 2018

Mario Mastrangelo, and Manuela Tolve, and Martina Martinelli, and Sofia P Di Noia, and Elena Parrini, and Vincenzo Leuzzi
Department of Human Neuroscience, "Sapienza, University of Rome", Rome, Italy.

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.

UI MeSH Term Description Entries
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D004569 Electroencephalography Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain. EEG,Electroencephalogram,Electroencephalograms
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013036 Spasms, Infantile An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8) Cryptogenic Infantile Spasms,Hypsarrhythmia,Infantile Spasms,Jackknife Seizures,Nodding Spasm,Salaam Seizures,Spasmus Nutans,Symptomatic Infantile Spasms,West Syndrome,Cryptogenic West Syndrome,Lightning Attacks,Salaam Attacks,Symptomatic West Syndrome,Attack, Lightning,Attacks, Lightning,Attacks, Salaam,Cryptogenic Infantile Spasm,Hypsarrhythmias,Infantile Spasm,Infantile Spasm, Cryptogenic,Infantile Spasm, Symptomatic,Infantile Spasms, Cryptogenic,Infantile Spasms, Symptomatic,Jackknife Seizure,Lightning Attack,Nodding Spasms,Seizure, Jackknife,Seizures, Jackknife,Seizures, Salaam,Spasm, Cryptogenic Infantile,Spasm, Nodding,Spasm, Symptomatic Infantile,Spasms, Cryptogenic Infantile,Spasms, Nodding,Spasms, Symptomatic Infantile,Symptomatic Infantile Spasm,Syndrome, Cryptogenic West,Syndrome, Symptomatic West,Syndrome, West,West Syndrome, Cryptogenic,West Syndrome, Symptomatic

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