Publications (3)8.41 Total impact
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Article: A clinical and genetic study of 33 new cases with early-onset absence epilepsy.
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ABSTRACT: To investigate the electroclinical features and the outcome of patients with typical absences starting before the 3 years of life. We reviewed the clinical data of patients with absences started before 3 years observed over a 15-year period. Mutation analysis of SLC2A1 (GLUT-1) gene was performed when possible. Their clinical features were compared with those of subjects with a diagnosis of childhood absence epilepsy (CAE). Among 33 children with absence epilepsy starting before 3 years of life, there were 20 boys and 13 girls. Mean seizure onset was at 28.0 ± 8.3 (range: 8-36) months of life. Two children displayed borderline intellectual functioning at long-term follow-up. Twenty-eight (85%) patients showed excellent response to therapy. Three subjects evolved into a different form of idiopathic generalized epilepsy (IGE). No SLC2A1 mutation was identified in 20 (60.6%) patients tested. The main clinical features of patients with early-onset absences did not differ from those of CAE except for increased prevalence of males (p=0.002) and longer treatment duration (p=0.001) in the former. Strong similarities in the electroclinical features and outcome between children with early-onset absences and those with CAE support the view that these conditions are part of the wide spectrum of IGE.Epilepsy research 05/2011; 95(3):221-6. · 2.48 Impact Factor -
Article: Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.
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ABSTRACT: Pyridoxine-dependent seizures (PDS) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. Patients are typically resistant to conventional anticonvulsants but respond well to the administration of pyridoxine. We report two unrelated patients affected with PDS as a result of alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency caused by pathogenic ALDH7A1/antiquitin mutations. Two of the three reported mutations are novel and result in erroneous splicing, as showed by messenger RNA (mRNA) studies. So far, the vast majority of the patients clinically diagnosed as PDS show alpha-AASA dehydrogenase deficiency, caused by mutations in the ALDH7A1 gene. However, despite the availability of reliable biomarkers, early consideration of a pyridoxine trial is still the most important issue in a child with therapy-resistant seizures.Epilepsia 09/2008; 50(4):933-6. · 3.96 Impact Factor -
Article: Absent or reverse end-diastolic flow in the umbilical artery: intellectual development at school age.
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ABSTRACT: This study was designed to establish whether, in growth-retarded fetuses, absent or reverse end-diastolic (ARED) flow velocity in the umbilical artery can be predictive of an increased incidence of long-term neurological and intellectual impairment. A total of 14 children with intra-uterine growth retardation (IUGR) and ARED flow in the umbilical artery and 11 children without this velocimetric pattern were examined by pediatric neuropsychiatrists at a median age of 8.7 years to evaluate and compare their neurological and intellectual development. The incidence of major neurological sequelae was higher in the children with ARED velocity in the umbilical artery (21%) than in those without this velocimetric pattern (9%), as was the incidence of mild neurological sequelae (35% versus 27%). No differences in mean intelligence quotient (IQ) as evaluated by mean of Intelligence Scale for Children-Revised (WISC-R) scale were found between the two groups of children at school age. Our data demonstrate that Doppler velocimetry in the umbilical artery is a reliable predictor for neurological sequelae when ARED flow is present but cannot be considered a good predictor of intellectual performance at school.European Journal of Obstetrics & Gynecology and Reproductive Biology 06/2004; 114(1):23-8. · 1.97 Impact Factor
