Search results for "Seizures"
showing 10 items of 152 documents
Benign and severe early-life seizures: a round in the first year of life
2018
Abstract Background At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment. Seizure disorders starting in early life include the “epilepti…
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
2019
Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.
PURINE AND PYRIMIDINE NUCLEOTIDES IN THE BRAIN OF NORMAL AND CONVULSANT RATS
1969
— Purine and pyrimidine nucleotides were measured in the brain of normal and electroshocked rats after chromatographic separation on ion-exchange resin of mono-, di- and tri-phosphorylated derivatives. CMP, IMP and NAD did not show any significant quantitative change. Adenine nucleotides showed an abrupt change followed by a rapid return to the control value. GTP was the only purine nucleotide exhibiting a relatively slow return to its starting concentration. The greatest percentage increase after electroshock was observed in UMP, which returned to its control value only after 5 min; UDPCoenzymes (i.e. UDPA plus UDPG) showed a relatively small drop during the development of the seizure and …
N-ACETYL-ASPARTATE ABNORMALITIES IN INTERNAL-TEMPORAL EPILEPTICUS FOCUS USING PROTON MAGNETIC-RESONANCE SPECTROSCOPY
1995
International audience; Abstract: The aim of this study was to characterize the neurochemical abnormalities related to N-acetyl-aspartate which is a neuronal marker, within an epilepticus focus located in the internal-temporal area, using proton magnetic resonance spectroscopy, Eleven patients,with a mono-hippocampal epilepticus focus on clinical and per-critical electroencephalographical criteria, were matched with II controls by age, sex and laterality. Proton spectroscopy of a volume of 8 cm(3) was performed within the ipsilateral and the contralateral internal-temporal area and within the 2 hippocampus of controls. Volumetry of the ipsilateral and the contralateral hippocampus and of th…
Characterization of entropy measures against data loss: Application to EEG records
2012
This study is aimed at characterizing three signal entropy measures, Approximate Entropy (ApEn), Sample Entropy (SampEn) and Multiscale Entropy (MSE) over real EEG signals when a number of samples are randomly lost due to, for example, wireless data transmission. The experimental EEG database comprises two main signal groups: control EEGs and epileptic EEGs. Results show that both SampEn and ApEn enable a clear distinction between control and epileptic signals, but SampEn shows a more robust performance over a wide range of sample loss ratios. MSE exhibits a poor behavior for ratios over a 40% of sample loss. The EEG non-stationary and random trends are kept even when a great number of samp…
Spike-wave discharges in absence epilepsy: segregation of electrographic components reveals distinct pathways of seizure activity.
2020
Key points The major electrophysiological hallmarks of absence seizures are spike and wave discharges (SWDs), consisting of a sharp spike component and a slow wave component. In a widely accepted scheme, these components are functionally coupled and reflect an iterative progression of neuronal excitation during the spike and post-excitatory silence during the wave. In a genetic rat model of absence epilepsy, local pharmacological inhibition of the centromedian thalamus (CM) selectively suppressed the spike component, leaving self-contained waves in epidural recordings. Thalamic inputs induced activity in cortical microcircuits underlying the spike component, while intracortical oscillations…
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
2021
AbstractWhereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene,SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carryingSATB1variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression…
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
2014
The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is 1.5 Mb. CHRNA7 has been identified as the gene responsible for the neurological phenotype in this microdeletion syndrome. Only seven patients with a homozygous microdeletion that includes at least CHRNA7, and is inherited from both parents have been described in the literature. The aim of this study was to further describe the distinctive eye manifestations from the analysis in the three French patients diagnosed with the classical 1.5 Mb homozygous microdeletion. Patients…
Rufinamide in children and adults with Lennox-Gastaut syndrome: first Italian multicenter experience
2010
This is the first multicenter Italian experience with rufinamide as an adjunctive drug in children, adolescents and adults with Lennox-Gastaut syndrome. The patients were enrolled in a prospective, add-on, open-label treatment study from 11 Italian centers for children and adolescent epilepsy care. Forty-three patients (26 males, 17 females), aged between 4 and 34 years (mean 15.9 ± 7.3, median 15.0), were treated with rufinamide for a mean period of 12.3 months (range 3-21 months). Twenty patients were diagnosed as cryptogenic and 23 as symptomatic. Rufinamide was added to the baseline therapy at the starting dose of 10mg/kg body weight, evenly divided in two daily doses and then increased…
PRELIMINARY-OBSERVATIONS OF METABOLIC CHARACTERIZATION OF BILATERAL TEMPORAL EPILEPTIC FOCUS, USING PROTON MAGNETIC-RESONANCE SPECTROSCOPY - 3 CASES
1994
International audience; Abstract: The authors report the case of 3 patients with bilateral temporal lobe epilepsy demonstrated by EEG and sphenoidal electrodes. Two out of the 3 patients presented with childhood febrile convulsions. Their neurological and mental examination was normal. EEG showed spikes within the anterior part of the 2 temporal lobes. CT scan and MRI showed no atrophic lesion within the 2 temporal lobes. Proton magnetic resonance spectroscopy, performed within a cube of 8 cube-centimetres localized in the anterior part of the 2 temporal lobes showed a significant decrease of N-acetyl-aspartate in the 2 temporal lobes of the 3 cases, compared with controls matched with age,…