Ciriaco Scoppetta

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The mRNA levels of NKCC1, an inwardly directed Na(+), K(+)-2Cl(-) cotransporter that facilitates the accumulation of intracellular Cl(-), and of KCC2, an outwardly directed K(+)-Cl(-) cotransporter that extrudes Cl(-), were studied in surgically resected brain specimens from drug-resistant temporal lobe (TL) epilepsy (TLE) patients. Quantitative RT-PCR(More)
In 1995 Laing et al. (Am J Hum Genet 56(1995)422) described a single family with nine members affected by an autosomal dominant infantile onset distal myopathy. This family generated a LOD score of 2.6 for a locus on chromosome 14. We describe two families with an infantile onset distal myopathy: a new family with four affected members and the family(More)
INTRODUCTION Distal myopathies are currently regarded as a non-homogeneous group of disorders including different autosomal dominant, recessive and sporadic forms. MATERIAL AND METHODS The cases of a mother and her son and daughter are described and compared to previously reported cases from 4 families. Despite minor differences, the clinical picture is(More)
Organic solvents (OS) are widely used in industry and craft work. The neurotoxic effects of OS are well known in occupational exposure occurring in poor industrial hygiene conditions. There has been interest recently in a possible epileptogenic effect of OS exposure. Two cases are reported of late onset epilepsy observed in workers heavily exposed to OS.(More)
We studied 7 mothers with myasthenia gravis (MG) and their infants. We confirmed that the development of neonatal MG was not related to the serum titer of maternal anti-acetylcholine receptor antibody (anti-AChR ab). To investigate the possibility that specific immunization of the newborn infant had occurred, serial serum determinations of total and(More)
Poly(A(+)) RNA was extracted from the temporal lobe (TL) of medically intractable epileptic patients which underwent surgical TL resection. Injection of this mRNA into Xenopus oocytes led to the expression of ionotropic receptors for gamma-aminobutyric acid (GABA), kainate (KAI) and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA). Membrane(More)
Autoantibodies that interfere with neurotransmitter release by affecting the function of voltage-operated calcium channels (VOCCs) have been found in patients with Lambert-Eaton myasthenic syndrome (LES). To find out the nature of the antigen to which these autoantibodies bind, tests were done with omega-conotoxin, which blocks some types of VOCCs. LES(More)
OBJECTIVE To assess the prognostic value of scalp electroencephalogram (EEG) after epilepsy surgery, we investigated whether postoperative EEG abnormalities (interictal epileptiform discharges, IED; interictal slow activity, ISA) were associated with seizure outcome and other patient characteristics after resective surgery in patients with temporal lobe(More)
Several environmental and life-style factors reported as possibly associated with ALS have been analysed in the present study, focusing on the two clinical onsets of ALS. A case-control study (77 cases and 185 controls) has been performed in the province of Rome in the period 2005-2006. Increased risks were observed in bulbar cases for former smokers (OR:(More)
PRIMARY OBJECTIVE To challenge the Multi-Society Task Force's ruling that a persistent vegetative state (PVS) can be judged to be permanent for non traumatic brain injury after three months. METHOD We report the case of a 44-year-old man who had recovery of consciousness with persistent severe disability 19 months after a non-traumatic brain injury at(More)