Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants

ConclusionWe thus present the GPI biosynthesis database and review the molecular genetics of published variants in GPI ‐anchor biosynthesis genes.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

Related Links:

This study aimed to investigate the risk of self-harm following diagnosis of different psychiatric disorders in an Asian population, through a review of inpatient records retrieved from the Hong Kong Clinical Data Analysis and Reporting System (CDARS).MethodsFor this nested case-control study, the inpatient data of people admitted for any reason to Hong Kong public hospitals, between Jan 1, 2000, and Dec 31, 2010, were extracted from CDARS. Cases were people aged 10 years or older who had been admitted to inpatient care with a first-listed record of psychiatric disorder during the study period. The seven psychiatric disord...
Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research
Objective: We develop a fast learning algorithm combining symbolic dynamics and brain-inspired hyperdimensional computing for both seizure onset detection and identification of ictogenic (seizure generating) brain regions from intracranial electroencephalography (iEEG). Methods: Our algorithm first transforms iEEG time series from each electrode into symbolic local binary pattern codes, from which a holographic distributed representation of the brain state of interest is constructed across all the electrodes and over time in a hyperdimensional space. The representation is used to quickly learn from few seizures, detect the...
Source: IEEE Transactions on Biomedical Engineering - Category: Biomedical Engineering Source Type: research
Conclusion: Epileptic activity originating in the temporal or frontal areas is seen to affect these areas in both hemispheres. Significance: The results obtained express the dynamics of focal epilepsy in context to both the epileptogenic zone and the affected distant areas of the brain.
Source: IEEE Transactions on Biomedical Engineering - Category: Biomedical Engineering Source Type: research
Cumulating evidence from rodent models points to a pathophysiological role of inflammatory signaling in the epileptic brain with Toll-like receptor-4 signaling acting as one key factor. However, there is an ap...
Source: BMC Veterinary Research - Category: Veterinary Research Authors: Tags: Research article Source Type: research
We report two adults infected with HIV presenting with encephalopathy and seizures. Case 1 had a monophasic encephalopathy with detection of NMDAR antibodies in the context of HIV CSF escape. There was a clinical response to immunotherapy and anti-retroviral therapy adjustment. Case 2 initially presented in non-convulsive status epilepticus associated with HIV CSF escape. He responded to treatment with anti-epileptic drugs and anti-retroviral therapy alteration, but had two further neurological relapses. NMDAR antibodies were detected during the relapses and a clinical response was observed following treatment with immunot...
Source: Journal of Neurology - Category: Neurology Source Type: research
ConclusionIt is envisaged that the current review will add value to more scientific research on M. flabellifolius and enhance/promote the increased interest in the sustainable commercialization of M. flabellifolius herbal tea as well as lead to the validation of unverified ethnobotanical claims.Graphical abstract
Source: Journal of Ethnopharmacology - Category: Drugs & Pharmacology Source Type: research
Publication date: Available online 17 January 2020Source: Neurochemistry InternationalAuthor(s): Pamela R. Westmark, Alejandra Gutierrez, Aaron K. Gholston, Taralyn M. Wilmer, Cara J. WestmarkAbstractThe ketogenic diet is highly effective at attenuating seizures in refractory epilepsy and accumulating evidence in the literature suggests that it may be beneficial in autism. To our knowledge, no one has studied the ketogenic diet in any fragile X syndrome (FXS) model. FXS is the leading known genetic cause of autism. Herein, we tested the effects of chronic ketogenic diet treatment on seizures, body weight, ketone and glucos...
Source: Neurochemistry International - Category: Neuroscience Source Type: research
Publication date: Available online 17 January 2020Source: Journal of Clinical NeuroscienceAuthor(s): Marius Gasser, Ponghatai Boonsimma, Wiracha Netbaramee, Thanin Wechapinan, Chalurmpon Srichomthomg, Chupong Ittiwut, Martin Krenn, Fritz Zimprich, Ivan Milenkovic, Angela Abicht, Saskia Biskup, Timo Roser, Vorasuk Shotelersuk, Moritz Tacke, Marianne Kuersten, Matias Wagner, Ingo Borggraefe, Kanya Suphapeetiporn, Celina von StülpnagelAbstractATP1A3 related disease is a clinically heterogeneous condition currently classified as alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism and cerebellar ataxia, ...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
Publication date: February 2020Source: Learning and Motivation, Volume 69Author(s): Fereshteh Keikhaei, Mohammad Ali Mirshekar, Mohammad Reza Shahraki, Alireza DashipourAbstractTemporal lobe epilepsy (TLE) causes impairment in learning and memory by causing neurological damage. Using the antioxidant and anti-inflammatory effects of myricitrin (MYC), the present study was conducted in order to investigate the neuroprotection effects of MYC in kainic acid (KA) induced- TLE experimental model.Forty male Wistar rats were divided into five groups: 1: Sham, 2: MYC, 3: TLE (epileptic group), 4: VA + TLE (valproic acid and KA ...
Source: Learning and Motivation - Category: Psychiatry & Psychology Source Type: research
.
Source: Cell Cycle - Category: Cytology Authors: Source Type: research
More News: Brain | Databases & Libraries | Epilepsy | Genetics | Neurology