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Zahraa Haidar, Nadine Jalkh, Sandra Corbani, Ali Fawaz, Eliane Chouery, André Mégarbané
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder. In the classical form, seizures are observed within the first month of life, while in the atypical form seizures appear later in life, sometimes as late as at the age of 3 years of life. Both types are unresponsive to conventional anticonvulsant therapy, but can be controlled with pyridoxine monotherapy. Mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase have been reported to cause this disease in most patients...
March 10, 2018: Seizure: the Journal of the British Epilepsy Association
Rodrigo Vargas, Lucas Beltrán, Rafael Lizama, Gabriela Reyes Valenzuela, Roberto Caraballo
PURPOSE: To present a retrospective study of 13 children with benign epilepsy with centrotemporal spikes (BECTS), also known as benign rolandic epilepsy (BRE), associated with generalized spikes and waves as the only EEG manifestation at onset. METHOD: Charts of children with typical clinical criteria of BRE electroclinically followed-up between February 2000 and February 2015 were reviewed. RESULTS: Among 309 patients who met the electroclinical criteria of BRE, we identified 13 children who presented with the typical clinical manifestations but who, on the EEG, only had generalized paroxysms at onset that continued along the course of the syndrome...
March 9, 2018: Seizure: the Journal of the British Epilepsy Association
Jana Tchekalarova, Keylla da Conceição Machado, Antonio Luiz Gomes Júnior, Ana Amélia de Carvalho Melo Cavalcante, Albena Momchilova, Rumyana Tzoneva
PURPOSE: Activation of CB1 receptors, produces anticonvulsant effect accompanied by memory disturbance both in animal seizure tests and in patients with epilepsy. Few reports considered the role of CB2 receptor on seizure susceptibility and cognitive functions. The aim of the present study was to explore the effect of a selective CB2 receptor agonist β-caryophyllene (BCP) in models of seizures and cognition in mice. METHODS: Dose-dependent effects of BCP was studied in maximal electroshock seizure (MES) test, subcutaneous pentylenetetrazole (scPTZ) test and Morris water maze test...
March 12, 2018: Seizure: the Journal of the British Epilepsy Association
Albena Vassileva, Dorien van Blooijs, Frans Leijten, Geertjan Huiskamp
The aim of this review is to evaluate whether open-loop or closed-loop neocortical electrical stimulation should be the preferred approach to manage seizures in intractable epilepsy. Twenty cases of open-loop neocortical stimulation with an implanted device have been reported, in 5 case studies. Closed-loop stimulation with an implanted device has been investigated in a larger number of patients in the RNS System clinical trials. With 230 patients enrolled at the start of the Long-term Treatment Trial, 115 remained at the last reported follow-up...
February 19, 2018: Epilepsy Research
Richard Teke Ngomba, Gilles van Luijtelaar
Metabotropic glutamate (mGlu) receptors are expressed in key regions of the cortex and the thalamus and are known to regulate spike and wave discharges (SWDs), the electroclinical hallmarks of absence seizures. Recent preclinical studies have highlighted the therapeutic potential of selective group I and III mGlu receptor subtype allosteric modulators, which can suppress pathological SWDs. Of particular interest are positive allosteric modulators (PAMs) for mGlu5 receptors, as they currently show the most promise as novel anti-absence epilepsy drugs...
March 13, 2018: Current Opinion in Pharmacology
Ariana Sherdil, Stéphan Chabardès, Isabelle Guillemain, Sandrine Michallat, Shivadatta Prabhu, Karine Pernet-Gallay, Olivier David, Brigitte Piallat
PURPOSE: Our objective was to propose a new on demand non-human primate model of mesial temporal lobe seizures suitable for pre-clinical innovative therapeutic research. METHODS: Five macaques were stereotaxically implanted unilaterally with a deep recording electrode in the hippocampus. For each experiment, penicillin was injected into the hippocampus and animals were monitored during five consecutive hours. A total of 12-27 experiments with a mean cumulative dose of 162644 ± 70190 UI of penicillin have been performed per animal Injections were repeated at least once a week over a period of 98-276 days...
March 9, 2018: Epilepsy Research
Eimer Maloney, Ronan N McGinty, Daniel J Costello
PURPOSE: Reporting of 'real-world' data on efficacy and tolerability of antiepileptic medications helps to inform physicians on how newer medications perform in the clinical setting, outside of the strict regimens of clinical trials. We report our experience of prescribing lacosamide monotherapy to a diverse range of patients at our epilepsy centre. METHODS: We performed a single-centre, retrospective review of all patients who had been prescribed lacosamide monotherapy over the last 8 years...
March 8, 2018: Epilepsy Research
Brin Freund, James J Gugger, Alexandra Reynolds, William O Tatum, Jan Claassen, Peter W Kaplan
PURPOSE: Periodic discharges (PDs) are EEG patterns denoting brain dysfunction and ictal tendency. Their exact meaning regarding etiology and outcomes is not well known. In particular, bilateral independent PDs (BIPDs) are poorly described. METHODS: We performed a retrospective, multicenter study evaluating neuroimaging, epileptic, clinical, and EEG correlates of BIPDs. RESULTS: Twenty-five patients studied with a mean Glasgow Coma Scale 6...
March 15, 2018: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
Vedavathi Kunnanayaka, Puneet Jain, Suvasini Sharma, Anju Seth, Satinder Aneja
Background: West syndrome is a catastrophic epilepsy syndrome characterized by infantile spasms, hypsarrhythmia, and developmental arrest or regression. Aim: The aim of this study was to explore the role of pyridoxine in the management of infantile spasms. Setting and Design: This was a pilot, randomized, open-label trial conducted at a tertiary level hospital from November 2012 to March 2014. Materials and Methods: Children aged 3 months to 3 years presenting with infantile spasms in clusters (at least 1 cluster/day) with hypsarrhythmia or its variants on electroencephalogram (EEG) were enrolled...
March 2018: Neurology India
Sunil Pradhan, Madhura Mulmuley
No abstract text is available yet for this article.
March 2018: Neurology India
Marija Bošnjak Pašić, Emina Horvat Velić, Luka Fotak, Hanna Pašić, Azijada Srkalović Imširagić, Davorka Milat, Helena Šarac, Sarah Bjedov, Željka Petelin GadŽe
French expression standing for the phrase "already seen" is a déjà vu. It is thought that as much as 97% of the population have experienced déjà vu at least once in their lifetime and 67% experience it regularly. The explanations of this phenomenon in novels and poems include reincarnation, dreams, organic factors, and unconscious memories. In this narrative review connection between déjà vu and various other conditions has been mentioned: false memories, temporal lobe epilepsy and other neurological conditions...
March 2018: Psychiatria Danubina
Aruna Vashishta, Lukasz P Slomnicki, Maciej Pietrzak, Scott C Smith, Murali Kolikonda, Shivani P Naik, Rosanna Parlato, Michal Hetman
Ribosome biogenesis, including the RNA polymerase 1 (Pol1)-mediated transcription of rRNA, is regulated by the pro-epileptogenic mTOR pathway. Therefore, hippocampal Pol1 activity was examined in mouse models of epilepsy including kainic acid- and pilocarpine-induced status epilepticus (SE) as well as a single seizure in response to pentylenetetrazole (PTZ). Elevated 47S pre-rRNA levels were present acutely after induction of SE suggesting activation of Pol1. Conversely, after a single seizure, 47S pre-rRNA was transiently downregulated with increased levels of unprocessed 18S rRNA precursors in the cornu Ammonis (CA) region...
March 15, 2018: Molecular Neurobiology
Cara J Westmark
No abstract text is available yet for this article.
March 1, 2018: Journal of Nutrition
Dorothy W Gietzen, Sarah H Lindström, James W Sharp, Pok Swee Teh, Michael J Donovan
Background: Low protein amounts are used in ketogenic diets (KDs), where an essential (indispensable) amino acid (IAA) can become limiting. Because the chemically sensitive, seizurogenic, anterior piriform cortex (APC) is excited by IAA limitation, an imbalanced KD could exacerbate seizure activity. Objective: We questioned whether dietary IAA depletion worsens seizure activity in rodents fed KDs. Methods: In a series of 6 trials, male rats or gerbils of both sexes (6-8/group) were given either control diets (CDs) appropriate for each trial, a KD, or a threonine-devoid (ThrDev) diet for ≥7 d, and tested for seizures using various stimuli...
March 1, 2018: Journal of Nutrition
Marinho A Lopes, Mark P Richardson, Eugenio Abela, Christian Rummel, Kaspar Schindler, Marc Goodfellow, John R Terry
Recent studies have shown that mathematical models can be used to analyze brain networks by quantifying how likely they are to generate seizures. In particular, we have introduced the quantity termed brain network ictogenicity (BNI), which was demonstrated to have the capability of differentiating between functional connectivity (FC) of healthy individuals and those with epilepsy. Furthermore, BNI has also been used to quantify and predict the outcome of epilepsy surgery based on FC extracted from pre-operative ictal intracranial electroencephalography (iEEG)...
2018: Frontiers in Neurology
Iris Gorny, Kristina Krause, Anita Albert, Sabrina Schneider, Leona Möller, Lena Habermehl, Adam Strzelczyk, Felix Rosenow, Anke Hermsen, Susanne Knake, Katja Menzler
Objectives: The German socio-demographic estimation scale was developed by Jahn et al. (1) to quickly predict premorbid global cognitive functioning in patients. So far, it has been validated in healthy adults and has shown a good correlation with the full and verbal IQ of the Wechsler Adult Intelligence Scale (WAIS) in this group. However, there are no data regarding its use as a bedside test in epilepsy patients. Methods: Forty native German speaking adult patients with refractory epilepsy were included...
2018: Frontiers in Neurology
Gözde Yeşil, Ayşe Aralaşmak, Enes Akyüz, Dilara İçağasıoğlu, Türkan Uygur Şahin, Yavuz Bayram
BACKGROUND: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage and calcium-sensitive potassium channel (BK channels) which plays an important role in neuronal excitability. Heterozygous mutations in KCNMA1 were firstly described in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recently, homozygous KCNMA1 mutations were reported to cause a phenotype of cerebellar atrophy, developmental delay and seizures. CASE REPORT: Herein; we report a patient with a novel homozygous truncating mutation in KCNMA1 (p...
March 16, 2018: Balkan Medical Journal
Kotaro Yuge, Kazuhiro Iwama, Chihiro Yonee, Mayumi Matsufuji, Nozomi Sano, Tomoko Saikusa, Yukako Yae, Yushiro Yamashita, Takeshi Mizuguchi, Naomichi Matsumoto, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age...
March 12, 2018: Brain & Development
Doodipala Samba Reddy
Neurosteroids like allopregnanolone (AP) are positive allosteric modulators of synaptic and extrasynaptic GABA-A receptors. AP and related neurosteroids exhibit a greater potency for δ-containing extrasynaptic receptors. The δGABA-A receptors, which are expressed extrasynaptically in the dentate gyrus and other regions, contribute to tonic inhibition, promoting network shunting as well as reducing seizure susceptibility. Levels of endogenous neurosteroids fluctuate with ovarian cycle. Natural and synthetic neurosteroids maximally potentiate tonic inhibition in the hippocampus and provide robust protection against a variety of limbic seizures and status epilepticus...
2018: Vitamins and Hormones
Philippe Desmarais, Catherine Miville, Ángela Milán-Tomás, Quoc Dinh Nguyen, Carmen Ojeda-López, Mario Masellis, Sandra E Black, Danielle Molinari Andrade, Nathan Herrmann
OBJECTIVES: To analyze age representation trends over time in antiepileptic drug (AED) trials and to assess trial design elements as possible barriers to enrollment of elderly patients. MATERIALS AND METHODS: We searched MEDLINE, EMBASE, and PsycINFO, and meta-analyzed demographic data of cohorts enrolled in randomized controlled trials (RCTs) of AEDs published since 1991. Data analysis included trends of age representation over time and trial design elements associated with average age of enrolled cohorts...
March 6, 2018: Epilepsy Research
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