What's Current?

Medical marijuana liquid extract may bring hope for children with severe epilepsy

Science Daily - Mon, 04/13/2015 - 18:37
A medicinal liquid form of marijuana may show promise as a treatment for children with severe epilepsy that is not responding to other treatments, according to a new study.
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Announcements

Epilepsia - Mon, 04/13/2015 - 03:54
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What can brain-controlled prosthetics tell us about the brain?

Medical News Today - Mon, 04/13/2015 - 03:00
The ceremonial opening kick of the 2014 FIFA World Cup in Sao Paolo, Brazil, which was performed--with the help of a brain-controlled exo-skeleton--by a local teen who had been paralyzed from the...
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GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

Epilepsia - Fri, 04/10/2015 - 08:17
Summary Objective

Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. Whole exome sequencing (WES) analysis of patients with genetically unsolved epileptic encephalopathies identified four patients with GRIN1 mutations, allowing us to investigate the phenotypic spectrum of GRIN1 mutations.

Methods

Eighty-eight patients with unclassified early onset epileptic encephalopathies (EOEEs) with an age of onset <1 year were analyzed by WES. The effect of mutations on N-methyl-d-aspartate (NMDA) receptors was examined by mapping altered amino acids onto three-dimensional models.

Results

We identified four de novo missense GRIN1 mutations in 4 of 88 patients with unclassified EOEEs. In these four patients, initial symptoms appeared within 3 months of birth, including hyperkinetic movements in two patients (2/4, 50%), and seizures in two patients (2/4, 50%). Involuntary movements, severe developmental delay, and intellectual disability were recognized in all four patients. In addition, abnormal eye movements resembling oculogyric crises and stereotypic hand movements were observed in two and three patients, respectively. All the four patients exhibited only nonspecific focal and diffuse epileptiform abnormality, and never showed suppression-burst or hypsarrhythmia during infancy. A de novo mosaic mutation (c.1923G>A) with a mutant allele frequency of 16% (in DNA of blood leukocytes) was detected in one patient. Three mutations were located in the transmembrane domain (3/4, 75%), and one in the extracellular loop near transmembrane helix 1. All the mutations were predicted to impair the function of the NMDA receptor.

Significance

Clinical features of de novo GRIN1 mutations include infantile involuntary movements, seizures, and hand stereotypies, suggesting that GRIN1 mutations cause encephalopathy resulting in seizures and movement disorders.

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Hippocampal antioxidative system in mesial temporal lobe epilepsy

Epilepsia - Thu, 04/09/2015 - 02:13
Summary Objective

To examine antioxidative system in hippocampi of patients with mesial temporal lobe epilepsy associated with hippocampal sclerosis (mTLE-HS).

Methods

Activity and levels of antioxidative enzymes—catalase (CAT), glutathione peroxidase (GPx), glutathione reductase (GR), manganese superoxide dismutase (MnSOD), and copper-zinc superoxide dismutase (CuZnSOD)—were assessed in hippocampi of nine pharmacoresistant mTLE-HS patients (mean age 37.7 ± [standard deviation] 6.6 years) who underwent amygdalohippocampectomy, and in 10 hippocampi obtained via autopsy from five neurologically intact controls (mean age 34.4 ± 9.0 years). Subfield and cellular (neuron/astrocyte) distribution of CAT, GPx, and MnSOD was analyzed in detail using immunohistochemical staining.

Results

Sclerotic hippocampi showed drastically increased activity of hydrogen peroxide–removing enzymes, CAT (p < 0.001), GPx (p < 0.001), and GR (p < 0.001), and significantly higher protein levels of CAT (p = 0.006), GPx (p = 0.040), GR (p = 0.024), and MnSOD (p = 0.004), compared to controls. CAT immunofluorescence was located mainly in neurons in both controls and HS. Control hippocampi showed GPx staining in blood vessels and CA neurons. In HS, GPx-rich loci, representing bundles of astrocytes, emerged in different hippocampal regions, whereas the number of GPx-positive vessels was drastically decreased. Neurons with abnormal morphology and strong MnSOD immunofluorescence were present in all neuronal layers in HS. Small autofluorescent deposits, most likely lipofuscin, were observed, along with astrogliosis, in CA1 in HS.

Significance

Antioxidative system is upregulated in HS. This documents, for the first time, that epileptogenic hippocampi are exposed to oxidative stress. Our findings provide a basis for understanding the potential involvement of redox alterations in the pathology of epilepsy, and may open new pharmacologic perspectives for mTLE-HS treatment.

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Eye Movements Differ Between Ictal Ipsilateral and Contralateral Head Turning

Epilepsy Research Journal - Thu, 04/09/2015 - 00:00
Head turning is a common seizure phenomenon in patients with focal epilepsies and was reported to have a high lateralizing significance (Wyllie et al., 1986). This finding was challenged by some studies which attributed no lateralizing significance to head movements since both, ipsilateral and contralateral head movement were observed during epileptic seizures of patients with focal epilepsies (Ochs et al., 1984). This controversy was resolved by the observation that the initial ipsilateral head movement was followed by a contralateral movement has a high lateralizing value (Abou-Khalil and Fakhoury, 1996; O’Dwyer et al., 2007; Rémi et al., 2011).
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