title: Convulsive disorder and the genetics of signal transduction; a study of a low molecular weight protein tyrosine phosphatase in a pediatric sample.
abstract: Recent studies point to an involvement of kinases and phosphatases in ionic channel regulation and in physiopathologic mechanisms leading to convulsive disorders. Acid phosphatase locus 1 (ACP1), also named cytosolic low molecular weight phosphotyrosine phosphatase, is a highly polymorphic phosphatase that is especially abundant in the central nervous system and is known to be involved in several signal transduction pathways. We studied ACP1 in 122 children with idiopathic generalized tonic-clonic seizures, 80 children with febrile convulsions, and 417 controls from the population of Rome. Low activity phenotypes of ACP1 (*A/*A and *A/*B) were found to be over-represented while high activity phenotypes (*C/*C and *B/*C) were under-represented in generalized seizures cases compared to controls (P < 0.005). No significant difference was observed between febrile convulsion cases and controls. These observations suggest a protective role of the high activity ACP1 phenotypes against seizures in children.
authors.affiliation: The Burnham Institute, La Jolla, CA, USA.
authors.forename: Nunzio
authors.initials: N
authors.lastname: Bottini
authors.forename: Patrizia
authors.initials: P
authors.lastname: Saccucci
authors.forename: Antonella
authors.initials: A
authors.lastname: Piciullo
authors.forename: Paola
authors.initials: P
authors.lastname: Iannetti
authors.forename: Nazareno
authors.initials: N
authors.lastname: Lucarini
authors.forename: Paola
authors.initials: P
authors.lastname: Lucarelli
authors.forename: Fulvia
authors.initials: F
authors.lastname: Gloria-Bottini
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
mesh_terms: D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D007527:Isoenzymes / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D011518:Proto-Oncogene Proteins; D003294:Seizures, Febrile / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics* / Q000502:physiology
chemical_list: D007527:Isoenzymes; D011518:Proto-Oncogene Proteins; C490429:ACP1 protein, human; D017027:Protein Tyrosine Phosphatases