Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach

In this study, we used gene interaction networks to investigate common gene signatures associated with the above phenotypes. In total, 19 candidate genes were used for making an interaction network which further revealed 39 associated genes (includingKCNA1,SCN2A,CACNA1A,KCNM4,KCNO3,SCN1B andCACNB4) implicated in paroxysmal neurological disorders development and progression. The meta-regression analysis showed the strongest association ofSCN2A with genes involved in schizophrenia and neurodevelopmental disorders. Importantly, our analysis showedKCNMA1 as a common gene signature with a link to epilepsy, movement disorders and wide paroxysmal neurological presentations —with the greatest potential risk of being a disease gene in a paroxysmal or psychiatric disorder. Further gene interaction analysis is required to identify unidentified gene interactions which may be targets for future drugs development.
Source: Neurological Sciences - Category: Neurology Source Type: research

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ConclusionsRCVS and TGA can occur simultaneously, which suggests common mechanisms such as aberrant responses to physical or emotional stress and cerebral vasoconstriction.
Source: Journal of Neurology - Category: Neurology Source Type: research
ConclusionsWith two different image analysis techniques, we confirmed the presence of cerebellar volume loss in FRDA, mainly affecting the posterior lobe. In particular, Lobule IX atrophy correlated with worse visuo-spatial abilities, further expanding our knowledge about the physiopathology of cognitive impairment in FRDA.
Source: Journal of Neurology - Category: Neurology Source Type: research
Authors: Ceskova E Abstract Introduction: Depressive symptoms may occur in any phase of schizophrenia and can have far-reaching consequences.Areas covered: The author focuses on recent reviews and meta-analyses dealing with the prevalence, importance, etiopathogenesis, and pharmacotherapy of comorbid depression and schizophrenia. Depressive symptoms in acute episodes may improve in parallel with psychosis due to antipsychotic treatment. Therefore, the first step is to evaluate the current antipsychotic treatment of psychotic symptoms and consider changing the dosage. A second step is switching antipsychotic medicat...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
Alongside positive and negative symptomatology, deficits in working memory, attention, selective learning processes, and executive function have been widely documented in schizophrenia spectrum psychosis. These cognitive abnormalities are strongly associated with impairment across multiple function domains and are generally treatment-resistant. The DTNBP1 (dystrobrevin-binding protein-1) gene, encoding dysbindin, is considered a risk factor for schizophrenia and is associated with variation in cognitive function in both clinical and nonclinical samples. Downregulation of DTNBP1 expression in dorsolateral prefrontal cortex ...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Publication date: Available online 28 January 2020Source: Trends in GeneticsAuthor(s): Feras E. Machour, Nabieh AyoubDefective double-strand break (DSB) repair leads to genomic instabilities that may augment carcinogenesis. DSBs trigger transient transcriptional silencing in the vicinity of transcriptionally active genes through multilayered processes instigated by Ataxia telangiectasia mutated (ATM), DNA-dependent protein kinase (DNA-PK), and poly-(ADP-ribose) polymerase 1 (PARP1). Novel factors have been identified that ensure DSB-induced silencing via two distinct pathways: direct inhibition of RNA Polymerase II (Pol II...
Source: Trends in Genetics - Category: Genetics & Stem Cells Source Type: research
The agency said that constipation, a common side effect of the popular schizophrenia medication, could progress to serious bowel complications, including complete bowel blockage, if not treated.News Alerts
Source: Medscape Internal Medicine Headlines - Category: Internal Medicine Tags: Psychiatry News Alert Source Type: news
CONCLUSIONS: The intraoperative anatomy and cause of nerve compression at the frontal trigger site vary greatly among patients. The authors report a supraorbital nerve foramen prevalence of 50.3 percent, which is greater than in previous cadaver studies of the general population. Lastly, the presence of pain at a specific site is associated with macroscopic nerve compression. PMID: 31985652 [PubMed - in process]
Source: Hand Surgery - Category: Surgery Authors: Tags: Plast Reconstr Surg Source Type: research
The average life expectancy of people with schizophrenia is 10 to 20 years less than in the general population. There has long been concern that one reason is long-term use of antipsychotic drugs to ease symptoms such as delusions and hallucinations.
Source: WebMD Health - Category: Consumer Health News Source Type: news
Publication date: Available online 27 January 2020Source: The Lancet NeurologyAuthor(s): Franziska Hopfner, Günter U Höglinger, Gregor Kuhlenbäumer, Anton Pottegård, Mette Wod, Kaare Christensen, Caroline M Tanner, Günther DeuschlSummaryBackgroundβ-adrenoceptors are widely expressed in different human organs, mediate important body functions and are targeted by medications for various diseases (such as coronary heart disease and heart attack) and many β-adrenoceptor acting drugs are listed on the WHO Model List of Essential Medicines. β-adrenoceptor antagonists are used by billions ...
Source: The Lancet Neurology - Category: Neurology Source Type: research
ConclusionTo the best of our knowledge, this is the first review dedicated to the characteristics of paediatric patients with PRS and epilepsy. Seizures are usually focal, became refractory in 40%, and have a significant impact on the quality of life and neurodevelopment of patients.
Source: Seizure - Category: Neurology Source Type: research
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