James G Heida, Jana Velíšková, Solomon L Moshé
proconvulsant effects in males but not in females. In males, administration of an androgen receptor antagonist flutamide between P0-P2 led to the disappearance of the proconvulsant muscimol effects at P15. Thus, activation of androgen receptors is important for the presence of proconvulsant SNR muscimol responses.
Karl Martin Klein, Regina Preisig-Müller, Susanne Knake, Hajo M Hamer, Wolfgang H Oertel, Bernd A Neubauer, Jürgen Daut, Felix Rosenow
10 family members (six affected, three unaffected, one probably affected), for the loci 2q36, 3q26, 5q34 and 14q23. Subsequently, a sequence analysis of the inward rectifier potassium channel gene KCNJ13 at 2q37 was carried out.ResultsSuggestive linkage for IGE was found on 2q36-37 at D2S2308 and D2S2193. No mutations were identified in the coding or 5’-non-coding regions of the exons of candidate gene KCNJ13.ConclusionsOur results corroborate former linkage findings on 2q36-2q37 and warrant further investigation of additional candidate genes within this chromosomal area in IGE.
José L Fernández-Torre, Jesús Calleja, Jon Infante
without swallowing movements, after a prolonged cardiopulmonary arrest. These movements were associated with a burst-suppression pattern on the electroencephalogram. [Published with video sequences]
Cristiano Termine, Federica Teutonico, Umberto Balottin, Marco Fasce, Matteo Ferri, Silvia Perna, Paolo Piccinelli, Guido Rubboli, Pierangelo Veggiotti
follow-up period. Methods. All patients were studied at the time of the first observation (T0) and after a long follow-up period (T1). At both T0 and T1, each patient underwent: 1) traditional and specific activation techniques during prolonged video-EEG monitoring to detect possible inducing factors; 2) neuropsychological evaluations during video-EEG monitoring either with eyes closed or eyes open to detect any transient cognitive impairment (TCI); 3) detailed neuropsychological assessment without simultaneous EEG recording, to detect any stable cognitive impairment (SCI). Results. EEG recordings showed transient, generalized paroxysms in one case and a continuous epileptic activity triggered by eye closure in the other two cases, at both T0 and T1. In all patients, no particular epileptiform discharge-induced factors were identified except for eye blinking (spontaneous, voluntary or induced by corneal reflex). The results of neuropsychological assessment while eyes were closed as compared to performances with eyes open, showed no significant differences at T0 or at T1 in two cases, thus possibly indicating the absence of TCI. Wechsler Intelligence Scales showed a decrease in performance at T1 in the two patients with eye closure-induced, continuous epileptiform activity. Detailed neuropsychological assessment without EEG recordings demonstrated an impairment of facial recognition ability in all three patients at T1. Conclusions. The lack of any differences between the results of neuropsychological tests performed with eyes open and eyes closed in two patients might suggest that not all eye-closure-triggered paroxysms are associated with TCI. On the other hand, our data highlight that EC-triggered, EEG epileptic discharges can produce long-lasting neuropsychological and behavioural effects, and also indicate that EEG discharges recurring over time might exert a disruptive effect on cognitive functions.Our three patients showed extreme variability across the neuropsychological tasks except for a facial recognition deficit that was evident in all cases, thus suggesting a possible dysfunction of temporo-occipital brain structures and/or of the fusiform face area as recently demonstrated by combined fMRI/EEG studies in patients with fixation-off sensitivity.
David G Vossler, Joan A Conry, Jerome V Murphy
with refractory PME (aged ≥ 5 years), who were taking up to three antiepileptic drugs, received adjunctive zonisamide (≤ 6 mg/kg/day) therapy for 16 weeks. Myoclonic seizures were recorded daily over a 24-hour period or in 10-minute epochs in the morning, afternoon, and evening. Safety was assessed via adverse events (AEs); efficacy was measured by the percentage of patients experiencing a ≥ 50% decrease in myoclonic seizure frequency from baseline.ResultsTreatment-related AEs, experienced by 53% (n = 16/30) of patients, led to five patients discontinuing zonisamide. The most common AEs were decreased appetite, somnolence, and asthenia. Overall, 36% of patients (n = 10/28) had a ≥ 50% reduction in myoclonic seizure frequency.ConclusionsThese results suggest that zonisamide may be useful in the treatment of patients with PME. However, due to the size and open-label character of this study, further research is required.