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.

Bottini, N., Saccucci, P., Piciullo, A., Iannetti, P., Lucarini, N., Lucarelli, P., et al. (2002). Convulsive disorder and the genetics of signal transduction; a study of a low molecular weight protein tyrosine phosphatase in a pediatric sample. NEUROSCIENCE LETTERS, 333(3), 159-162.

Convulsive disorder and the genetics of signal transduction; a study of a low molecular weight protein tyrosine phosphatase in a pediatric sample

BOTTINI, NUNZIO;SACCUCCI, PATRIZIA;GLORIA, FULVIA;CURATOLO, PAOLO
2002-11-29

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.
29-nov-2002
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/01 - STATISTICA MEDICA
English
Con Impact Factor ISI
Male; Protein Tyrosine Phosphatases; Isoenzymes; Alleles; Middle Aged; Infant; Female; Child, Preschool; Phenotype; Polymorphism, Restriction Fragment Length; Chromosomes, Human, Pair 2; Epilepsy, Generalized; Humans; Gene Frequency; Signal Transduction; Polymerase Chain Reaction; Proto-Oncogene Proteins; Child; Seizures, Febrile; Adult
Bottini, N., Saccucci, P., Piciullo, A., Iannetti, P., Lucarini, N., Lucarelli, P., et al. (2002). Convulsive disorder and the genetics of signal transduction; a study of a low molecular weight protein tyrosine phosphatase in a pediatric sample. NEUROSCIENCE LETTERS, 333(3), 159-162.
Bottini, N; Saccucci, P; Piciullo, A; Iannetti, P; Lucarini, N; Lucarelli, P; Gloria, F; Curatolo, P
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/17760
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