Geneviève Demarquay

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Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently. We studied a large series of 158 families with non-Friedreich progressive ARCA. We identified 14 patients (nine(More)
PURPOSE To report three patients with drug-resistant nocturnal hypermotor seizures (NHSs), no detectable brain lesion, and clinically defined nocturnal frontal lobe epilepsy (NFLE) or autosomal dominant NLFE (ADNFLE), whose intracerebral EEG ictal onset primarily involved the insula, rather than the mesial or orbital frontal cortex. METHODS Fourteen to 15(More)
PURPOSE Several animal studies suggest that the thalamus might be involved in the maintenance and propagation of epileptic seizures. However, electrophysiologic evidence for this implication in human partial epileptic seizures is still lacking. Considering the rich and reciprocal connectivity of the medial pulvinar (PuM) with the temporal lobe, we evaluated(More)
PURPOSE The lateralizing value of ictal head deviation (HD) in frontal lobe epilepsy (FLE) is a matter of debate. Although FLE is typically associated with tonic or clonic HD contralateral to seizure onset, ipsilateral HD has been noted in numerous reports. Whether both types of HD can be distinguished according to their clinical patterns has not yet been(More)
OBJECTIVE To investigate long-term (LTH) and short-term (STH) habituation of auditory event-related potentials (ERPs) during a migraine cycle, using a classic habituation paradigm. METHODS In 22 patients suffering from menstrually-related migraine and in 20 age-matched control subjects, auditory ERPs were recorded in 3 sessions: in the middle of the(More)
Olfactory hypersensitivity (OHS) may occur during migraine attacks and seems to be very specific to this form of headache. OHS is also observed during migraine-free periods and is associated with the presence of odour-triggered attacks. Yet the pathophysiology of OHS remains unknown. The aim of our study was to evaluate olfactory processing in migraineurs(More)
Vagus Nerve Stimulation (VNS) is recognized as an efficient procedure for controlling seizures in patients with drug-refractory epilepsies. It is used as a palliative procedure as a complement to conventional treatment by antiepileptic (AE) drugs and, according to literature, 40 to 50p.cent of patients report a decrease in seizures frequency >or=50p.cent,(More)
INTRODUCTION The purposes of this study are to describe clinical features of primary cough headache, primary exertional headache, and primary headache associated with sexual activity and to evaluate potential association with abnormalities in the cerebral or cervical venous circulation. METHODS This multicentre, observational, non-interventional(More)
BACKGROUND AND OBJECTIVES Brain tumours responsible for longstanding partial epilepsy are characterised by a high prevalence of dysembryoplastic neuroepithelial tumour (DNT), whose natural evolution is much more benign than that of gliomas. The preoperative diagnosis of DNT, which is not yet feasible on the basis of available clinical and imaging data,(More)
In this study we aimed to assess the brain distribution of 5-HT(1A) receptors in migraine patients without aura. Ten female migraine patients and 24 female healthy volunteers underwent magnetic resonance imaging and positron emission tomography using a radioligand antagonist of 5-HT(1A) receptors(More)