1,992 research outputs found
Partial epilepsies of childhood, bylateral synchronization, continuous spike-waves during slow sleep.
No full textanalysis of EEG paroxysmal activity during sleep in children with partial epileps
Myoclonic ecephalopathy in the CDKL5 gene mutation
No full textAbstract
OBJECTIVE: Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. The purpose of this study was to analyze the epileptic histories and EEGs of patients with the CDKL5 mutation.
METHODS: We reviewed the epilepsy histories and electroclinical analyses of three girls aged 9.5, 7.4, and 9.4 years, each with a mutation of the CDKL5 gene.
RESULTS: We revealed the presence of an encephalopathy that started by 1.5 months of age. At first, seizures involved tonic spasms or complex partial seizures, and were complicated by the later appearance of complex partial, tonic, and unexpectedly, myoclonic seizures. This form of epilepsy was drug resistant. Routine and prolonged video EEGs both displayed a homogeneous electroclinical pattern consisting of (a) unique background with diffuse high voltage sharp waves of 6-7 Hz, and absence of the typical rhythmic frontal-central theta activity present in Rett syndrome; (b) unique awake and sleep background, with diffuse, high voltage, continuous sharp waves with multifocal and diffuse spikes; (c) rhythmic, diffuse, 15 Hz activity accompanied clinically by tonic seizures; (d) intercritical pattern with pseudoperiodic, diffuse, sharp waves or pseudoperiodic, diffuse spike and polyspike or wave discharges; and (e) diffuse, spike, polyspike and wave discharges accompanied by massive or focal myoclonias or both.
CONCLUSIONS: Patients with the CDKL5 mutation have an early onset, epileptic encephalopathy in infancy that evolves into myoclonic seizures in childhood with a unique EEG pattern.
SIGNIFICANCE: Recognizing this type of encephalopathy could be useful in prompting clinicians to proceed further with their diagnostic work in patients not fitting the criteria of classical Rett syndrome.
PMID:16326141[PubMed - indexed for MEDLINE
Early myoclonic epileptic encephalopathy (E.M.E.E.)
No full textThe authors describe the electroclinical aspects and evolution of nine cases of myoclonic epileptic encephalopathy which began between two days and ten weeks of life. At onset it is associated with: myoclonic jerks, partial fits and periodic paroxysmal EEG abnormalities. Repeated spasms coexisting with partial fits and 'suppression-bursts' (both appearing later) complete the electroclinical picture. The neurological status (initially normal) progressively deteriorates leading within a few months to a decerebrate posture with opisthotonos. In spite of thorough neuroradiological, biochemical, cytological, metabolic, and ultrastructural investigations, the etiology remained unknown. However, the electroclinical and evolutive patterns are similar to those of some metabolic diseases (Polyodystrophy, Non-Ketotic Hyperglycinemia, etc.). All these observations display a homogeneous electroclinical pattern for which the authors propose the name of Early Myoclonic Epileptic Encephalopathy. This type deserves to be classified as a particular electroclinical entity among the epileptic encephalopathies of the first year of life; since its course is regularly downhill in all cases there may be a familial recurrence due to the possibility of a metabolic etiology
Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case
No full textA case of an infant suffering from progressive lethargy, sparse scalp hair, autistic-like behavior, myoclonias, and drug-resistant generalized seizures is reported. Laboratory investigations revealed, in the absence of metabolic acidosis, an increased urinary excretion of 2-ketoglutaric acid and a small peak of 3-hydroxyisovaleric acid. The serum biotinidase activity was 0.15 nmol min-1 ml-1 (normal range 5.2 +/- 0.9) in the propositus and 0.310 and 0.420 in her father and mother, respectively. The interictal EEG showed multifocal abnormalities; numerous seizures were recorded, with the pattern of true tonic-clonic fits, exceptional in infancy. Also myoclonias, auditory myoclonus, and repetitive startles were documented. Because of dramatic improvement of all symptoms and signs after starting biotin (5 mg twice daily), the authors suggest a therapeutical trial in all drug-resistant infantile seizures
Benign partial epilepsy with affective symptoms ("benign psychomotor epilepsy").
No full textElectroclinical study of benign affective seizure in childre
J/ψ production at midrapidity in p-Pb collisions at √sNN = 8.16 TeV
No full textThe production of inclusive, prompt and non-prompt J/ψ was studied for the first time at midrapidity (−1.37 2 GeV/c. The study of the J/ψ mesons in the dielectron channel used for the first time in ALICE online single-electron triggers from the Transition Radiation Detector, providing a data sample corresponding to an integrated luminosity of 689 ± 13 μb −1. The proton-proton reference cross section for inclusive J/ψ was obtained based on interpolations of measured data at different centre-of-mass energies and a universal function describing the p T-differential J/ψ production cross sections. The p T-differential nuclear modification factors R pPb of inclusive, prompt, and non-prompt J/ψ are consistent with unity and described by theoretical models implementing only nuclear shadowing. [Figure not available: see fulltext.
The partial occipital epilepsies in childhood: electroclinical delineation from the symptomatic to idiopatic cases.
No full textAnalyiss of the partial occipital epilepsies in childhood: electroclinical features which allow to distinguish between idiopatic and symptomatic case
Myoclonic epilepsy ("myoclonic status") in non progressive encephalopathies
No full textEelectroclinical features of myoclonic status in children with non.progressive encephalopathie
Prompt and non-prompt J/ψ production at midrapidity in Pb-Pb collisions at √sNN=5.02 TeV
No full textThe transverse momentum (pT) and centrality dependence of the nuclear modification factor RAA of prompt and non-prompt J/ψ, the latter originating from the weak decays of beauty hadrons, have been measured by the ALICE collaboration in Pb–Pb collisions at sNN = 5.02 TeV. The measurements are carried out through the e+e− decay channel at midrapidity (|y| < 0.9) in the transverse momentum region 1.5 < pT < 10 GeV/c. Both prompt and non-prompt J/ψ measurements indicate a significant suppression for pT > 5 GeV/c, which becomes stronger with increasing collision centrality. The results are consistent with similar LHC measurements in the overlapping pT intervals, and cover the kinematic region down to pT = 1.5 GeV/c at midrapidity, not accessible by other LHC experiments. The suppression of prompt J/ψ in central and semicentral collisions exhibits a decreasing trend towards lower transverse momentum, described within uncertainties by models implementing J/ψ production from recombination of c and c ̄ quarks produced independently in different partonic scatterings. At high transverse momentum, transport models including quarkonium dissociation are able to describe the suppression for prompt J/ψ. For non-prompt J/ψ, the suppression predicted by models including both collisional and radiative processes for the computation of the beauty-quark energy loss inside the quark-gluon plasma is consistent with measurements within uncertainties
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