Age-related secondary bilateral synchrony underlying ESES may be facilitated in multilobar polymicrogyria. The good seizure outcome contrasts with that usually found in the presence of cortical malformations. For children with polymicrogyria and drop attack seizures, surgical treatment of the epilepsy should be considered cautiously, and sleep EEG recordings should be performed systematically.

Summary:Recent studies by Isojärvi et al. have raised the issue of an increased incidence of polycystic ovary syndrome (PCOS) in women with epilepsy treated with valproate (VPA) and have proposed replacement with lamotrigine (LTG). Polycystic ovaries (PCO) are a common finding, with a prevalence >20% in the general population, and are easily detected by pelvic or vaginal ultrasonography, whereas PCOS is comparatively rare: few women with PCO have fully developed PCOS, which includes hirsutism, acne, obesity, hypofertility, hyperandrogenemia, and menstrual disorders. From an extensive review of the current literature, it appears that there are no reliable data on the actual prevalence of PCOS in normal women and in women with epilepsy. The pathogenesis of PCO is multifactorial, including genetic predisposition and the intervention of environmental factors, among which weight gain and hyperinsulinism with insulin resistance may play a part. The roles of central (hypothalamic/pituitary), peripheral, and local ovarian factors are still debated. PCO and PCOS appear to be more frequent in women with epilepsy, but there are no reliable data showing a greater prevalence after VPA. The recent studies by Isojärvi et al. may have been biased by the retrospective selection of patients. To date, there is no reason to contraindicate the use of VPA in women with epilepsy. However, patients should be informed about the risk of weight gain and its consequences. Key Words: Polycystic ovaries-Polycystic ovary syndrome-Valproate-Epilepsy-Insulin resistance.Reproductive and endocrine functions are major concerns for clinicians who treat women with epilepsy. For example, menstrual and reproductive disturbances may occur. Among these, polycystic ovaries (PCO) are a fairly common finding, but fully developed polycystic ovary syndrome (PCOS) has a lower incidence (1). Isojärvi et al. (2) has raised the issue of an increased occurrence of PCO and hyperandrogenism in women treated with valproate (VPA) (2). In a more recent article, group has proposed that VPA be contraindicated in young women with epilepsy and replaced with lamotrigine (LTG) to reverse the morphologic and endocrine changes (3). However, other possible causative factors have been implicated in the genesis of PCO, PCOS, and reproductive disorders in young women with epilepsy, and the basis of these conditions remains controversial.VPA has been used for >30 years in the treatment of various forms of epilepsy and is currently used by >2 million patients. It is particularly useful in the treatment of juvenile-onset idiopathic generalized epilepsies (4) and is, indeed, in the treatment of all forms of generalized seizures (5). It also is approved for treating mood disorders (6) and migraine (7) in North America. As VPA does not have enzyme-inducing properties, it represents a major treatment option in girls and in young women with epilepsy, both because of its efficacy and because it does not reduce the effectiveness of oral contraceptives.In this article, we examined the natur...

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Proper treatment of hypoxic myoclonic status is not clearly determined. Induced hypothermia is improving prognosis and a more aggressive treatment might be beneficial in some patients. Among the new options of antiepileptic drugs, perampanel (PER) is a drug with a novel mechanism, and it might be a promising drug for myoclonic status or as an antimyoclonic drug. We describe the use of PER in one patient with hypoxic super-refractory myoclonic status.DescriptionA 51-year-old patient presented after an out-of-hospital cardiac arrest due to an acute myocardial infarction. The patient was diagnosed with clinical and electrical (EEG) myoclonic status at the rewarming phase. Several treatments were used, starting with clonazepam, valproate, sedation (midazolam, propofol), and subsequently barbiturate-induced coma with persistent myoclonic status. Finally, we decided to try PER (dose: 6–8 mg) through a nasogastric tube, resulting in a marked improvement of EEG activity and myoclonus decrease. The patient had a progressive clinical improvement, with a CPC (Cerebral Performance Category) scale score of 1.ConclusionThis case shows the potential utility of PER as a therapeutic option in super-refractory hypoxic status and even its potential use before other aggressive alternatives considering their greater morbidity.

Objective To evaluate the perfusion computed tomography (PCT) patterns in patients with status epilepticus (SE). Methods We included consecutive SE patients, diagnosed by ictal encephalography (EEG) findings and clinical semiology, who prospectively underwent a dedicated PCT study of SE in the ictal phase. The perfusion maps were visually analyzed. For the quantitative assessment, regions of interest in areas where the maps suggested abnormalities were compared with the corresponding area in the unaffected contralateral cortex. Asymmetry indices between affected and unaffected hemispheres were calculated for the regional cerebral blood flow (rCBF), regional cerebral blood volume (rCBV), time to peak (TTP), and mean transit time (MTT). Nine patients underwent a follow‐up PCT after SE resolution, and the corresponding maps were compared to the ictal maps. In addition, we included a control group of 10 sex‐ and age‐matched patients with SE mimics or postictal phenomena, who also underwent acute PCT during the study period. Results The study included 19 patients: mean age 69.47 ± (standard deviation) 15.9 years, 68.4% men. On visual analysis of parametric perfusion maps during the ictal phase, regional cortical hyperperfusion was depicted in 78.9% of patients. Quantitative analysis showed significantly increased rCBF (P = 0.002) and rCBV (P = 0.004) values and decreased TTP (P < 0.001) and MTT (P = 0.001) in cortical areas of the affected vs the unaffected side. The mean asymmetry index was 12.8 for rCBF, 13.7 for rCBV, −3.0 for TTP, and −3.7 for MMT. In the nine patients with a follow‐up PCT, eight showed decreased intensity, rCBV (P = 0.035), and rCBF (P = 0.024) in the hyperperfusion areas. The sensitivity of hyperperfusion detection for the diagnosis of SE was 78.95%, specificity 90%, positive predictive value 93.75%, and negative predictive value 69.23%. Comparative quantitative analysis of asymmetry indices for rCBF, rCBV, and MTT between ictal PCT and control patients showed significant differences for all parameters (rCBF P = 0.001; rCBV P = 0.002; TTP P = 0.001; and MTT P = 0.001). Significance Visual and quantitative analysis of perfusion maps detects regional hyperperfusion in SE patients with good diagnostic capability. Perfusion was increased in PCT maps of the affected cerebral hemisphere as compared to the contralateral region during the ictal phase. PCT may provide valuable diagnostic information in patients with SE and complement the diagnostic value of EEG.

Lafora disease (LD, OMIM 254780) is a rare disorder characterized by epilepsy and neurodegeneration leading patients to a vegetative state and death, usually within the first decade from the onset of the first symptoms. In the vast majority of cases LD is related to mutations in either the EPM2A gene (encoding the glucan phosphatase laforin) or the EPM2B gene (encoding the E3-ubiquitin ligase malin). In this work, we characterize the mutations present in the EPM2A gene in a patient displaying a slow progression form of the disease. The patient is compound heterozygous with Y112X and N163D mutations in the corresponding alleles. In primary fibroblasts obtained from the patient, we analyzed the expression of the mutated alleles by quantitative real time PCR and found slightly lower levels of expression of the EPM2A gene respect to control cells. However, by Western blotting we were unable to detect endogenous levels of the protein in crude extracts from patient fibroblasts. The Y112X mutation would render a truncated protein lacking the phosphatase domain and likely degraded. Since minute amounts of laforin-N163D might still play a role in cell physiology, we analyzed the biochemical characteristics of the N163D mutation. We found that recombinant laforin N163D protein was as stable as wild type and exhibited near wild type phosphatase activity towards biologically relevant substrates. On the contrary, it showed a severe impairment in the interaction profile with previously identified laforin binding partners. These results lead us to conclude that the slow progression of the disease present in this patient could be either due to the specific biochemical properties of laforin N163D or to the presence of alternative genetic modifying factors separate from pathogenicity.

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This small, open study suggests that BRV increases anger measures less than LEV in epilepsy patients. However, larger, blinded control studies are required to establish whether this apparent difference can be confirmed.