Prognosis of Juvenile myoclonic epilepsy with eye-closure sensitivity.

Purpose: Eye closure sensitivity (ECS) has been described as a reflex trait in juvenile myoclonic epilepsy (JME). However, there is no consensus regarding its significance on prognosis. The aim of this study is to clarify the long-term impact of ECS documented by a clinical interview and a video-EEG neuropsychological protocol (VNPP) in a series of 133 JME patients.

Cognitive performance in juvenile myoclonic epilepsy patients with specific endophenotypes.

Purpose: Juvenile myoclonic epilepsy (JME) is a heterogeneous syndrome in which seizures can be precipitated not only by non-specific factors, such as sleep deprivation and stress, but also by specific stimuli, such as photic stimuli, eye-closure, praxis, and language. The presence of these reflex traits may indicate the hyperexcitability of different cortical areas, which may be reflected in patients' neuropsychological deficit profile. The objective of our study is to investigate the possible relations between JME endophenotypes and patients' cognitive performance.

Cerebal overinhibition could be the basis for the high prevalence of epilepsy in persons with Down syndrome.

Down syndrome (DS) is the most common cause of genetic intellectual disability, and the trisomy 21 is associated with more than 80 clinical traits, including higher risk for epilepsy. Several hypotheses have been put forward to explain the mechanisms underlying increased seizure susceptibility in DS: inherent structural brain abnormalities, abnormal cortical lamination, disruption of normal dendritic morphology, and underdeveloped synaptic profiles. A deficiency or loss of GABA inhibition is hypothesized to be one of the main alterations related to the epileptogenic process.

Phenotyping juvenile myoclonic epilepsy. Praxis induction as a biomarker of unfavorable prognosis.

Purpose: Juvenile myoclonic epilepsy (JME) is a heterogeneous syndrome with seizures presenting typical fluctuation in diurnal cycle and relation with awakening. Few publications have approached clinical expressions of praxis induction (PI) in the nosology of JME as well as its impact on outcome. The aim of this study is to characterize PI as the only reflex trait in JME and its relation with prognosis.

Blinking and eyelid myoclonia: Characteristics and correlations of eyelid movements.

Purpose: Eyelid myoclonia (EM) is considered a seizure type and has been described in several epileptic conditions. Previous studies reported that EM are precipitated only by slow eye closure, but little is known about the characteristics of blinking in patients with EM seizures and differences in precipitation of EM by different kinds of eye closure. We analyzed by video-EEG the characteristics of blinking and eye closure in these patients.

Outcomes of epileptic spasms in patients aged less than 3 years: single-center United States experience.

Retrospective review was performed of children aged <3 years with epileptic spasms at our center from 2004-2010. Short-term (<6 months) and long-term (≥6 months) outcomes were assessed. We included 173 children (104 boys; median age of onset, 6.

Impact of benign childhood epilepsy with centrotemporal spikes (BECTS) on school performance.

Unlabelled: BECTS represents the vast majority of childhood focal epilepsy. Owing to the age peculiarity of children who suffer from this disease, i.e.

Physiological and electroencephalographic responses to acute exhaustive physical exercise in people with juvenile myoclonic epilepsy.

Although the available evidence suggests that exercise may positively affect epilepsy, whether this effect is applicable to different types of epilepsy has not been established. Physiological responses during rest, acute physical effort, and a recovery period were studied by concomitant analysis of cerebral electric activity using EEGs in subjects with juvenile myoclonic epilepsy (JME) and healthy controls. In addition, level of habitual physical activity, body composition, and 1 week of actigraphy monitoring data were evaluated.

Experience with lacosamide in a series of children with drug-resistant focal epilepsy.

We report our pediatric experience with lacosamide, a new antiepileptic drug, approved by the US Food and Drug Administration as adjunctive therapy in focal epilepsy in patients more than 17 years old. We retrospectively reviewed charts for lacosamide use and seizure frequency outcome in patients with focal epilepsy (Wilcoxon signed rank test). Sixteen patients (7 boys) were identified (median dose 275 mg daily, 4.

Prognosis of juvenile myoclonic epilepsy is related to endophenotypes.

Purpose: To investigate if phenotypic variations have prognostic implications in juvenile myoclonic epilepsy (JME).

Methods: Sixty-five consecutive JME patients had video-EEG recording and were followed for at least three years. Reflex traits were defined as seizures and/or EEG discharges induction by eye-closure, photic stimulation, language, praxis or calculation.

The integrity of corpus callosum and cluster B personality disorders: a quantitative MRI study in juvenile myoclonic epilepsy.

Evidence suggests increased prevalence of cluster B personality disorders (PD) among patients with juvenile myoclonic epilepsy (JME), which has been associated with worse seizure control and more psychosocial dysfunctions. A preliminary voxel-based morphometry study demonstrated corpus callosum (CC) volume reduction in patients with JME and cluster B PD, particularly in the posterior midbody and isthmus. In this study we aimed to follow up these results with region of interest analysis.

Voxel-based morphometry evaluation of patients with photosensitive juvenile myoclonic epilepsy.

We aim to investigate structural brain abnormalities in juvenile myoclonic epilepsy (JME) patients with photosensitivity (PS). Sixty JME patients, 19 (32%) of whom were photosensitive, were submitted to 1.5T magnetic resonance voxel-based morphometry (VBM).

Provocative and inhibitory effects of a video-EEG neuropsychologic protocol in juvenile myoclonic epilepsy.

Purpose: Studies suggest that higher cognitive functions could precipitate seizures in juvenile myoclonic epilepsy (JME). The present study aimed to analyze the effects of higher mental activity on epileptiform discharges and seizures in patients with JME and compare them to those of habitual methods of activation.

Methods: Seventy-six patients with JME (41 female) underwent a video-EEG (electroencephalography) neuropsychologic protocol (VNPP) and habitual methods of activation for 4-6 h.

Are personality traits of juvenile myoclonic epilepsy related to frontal lobe dysfunctions? A proton MRS study.

Purpose: Personality traits characterized by emotional instability and immaturity, unsteadiness, lack of discipline, hedonism, frequent and rapid mood changes, and indifference toward one's disease have been associated with patients who have juvenile myoclonic epilepsy (JME). Literature data demonstrate worse seizure control and more psychosocial dysfunctions among patients with JME who have those traits. In this controlled study we performed a correlation analysis of psychiatric scores with magnetic resonance spectroscopy (MRS) values across JME patients, aiming to verify the existence of a possible relation between frontal lobe dysfunction and the prevalence of personality disorders (PDs) in JME.

Personality traits related to juvenile myoclonic epilepsy: MRI reveals prefrontal abnormalities through a voxel-based morphometry study.

Studies involving juvenile myoclonic epilepsy (JME) patients have demonstrated an elevated prevalence of cluster B personality disorders (PD) characterized as emotional instability, immaturity, unsteadiness, lack of discipline, and rapid mood changes. We aimed to verify a possible correlation between structural brain abnormalities in magnetic resonance image (MRI) and the PD in JME using voxel-based morphometry (VBM). Sixteen JME patients with cluster B PD, 38 JME patients without psychiatric disorders, and 30 healthy controls were submitted to a psychiatric evaluation through SCID I and II and to a MRI scan.

Magnetic resonance spectroscopy reveals an epileptic network in juvenile myoclonic epilepsy.

Purpose: To investigate the cerebral metabolic differences between patients with juvenile myoclonic epilepsy (JME) and normal controls and to evaluate to what extent these metabolic alterations reflect involvement of an epileptic network.

Methods: Sixty patients with JME were submitted to multi-voxel proton spectroscopy (1H-MRS) at 1.5 T over medial prefrontal cortex (MPC), primary motor cortex (PMC), thalamus, striatum, posterior cingulate gyrus (PCG), and insular, parietal, and occipital cortices.

Occipital intermittent rhythmic delta activity in absence epilepsy.

Occipital intermittent rhythmic delta activity (OIRDA) is considered good prognostic factor in typical absences (TA). We report electroclinical evolution in 14 patients with TA and OIRDA, which performed video-EEG. Seven patients were female; 9 had childhood absence epilepsy and the others did not present electroclinical characteristics for syndromic classification according to ILAE's classification (1989).

Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities.

Context: gamma-Aminobutyric acid (GABA) is a dominant inhibitory neurotransmitter involved in the modulation of brain electric activity and puberty onset in primates. GABA inhibitory effects on GnRH neurons are mainly mediated by GABA-A receptor alpha1-subunit.

Objective: The objective of this study was to investigate functional mutations or polymorphisms of the GABA-A receptor alpha1-subunit gene (GABRA1) in girls with idiopathic gonadotropin-dependent precocious puberty (GDPP) with and without electroencephalographic (EEG) abnormalities.

Brainstem auditory evoked response in normal term neonates.

Brainstem auditory evoked response (BAER) is a reliable test for neonatal auditory and neurological dysfunction and it permits early diagnosis and rehabilitation. The purpose of this study is to demonstrate latencies of BAER in normal term neonates in order to obtain reference values in a university hospital. BAER was performed in the second day of life in 47 normal newborns (25 male, 22 female) which gestational ages were higher than 37 and lower than or equal to 40 weeks that did not present familial history of deafness.

Syndromic classification of patients with typical absence seizures.

The aim of this study is to compare ILAE classification (1989) and Panayiotopoulos' criteria (1997) for absence epilepsies. We studied 455 typical absences (ILAE, 1981) by video-EEG in 43 patients with normal neurological and neuroradiological examinations and interictal EEG with spike-wave complexes higher than 2.5Hz.