Treatment and challenges with antiepileptic drugs in patients with juvenile myoclonic epilepsy

ConclusionDespite the use of AEDs in the majority of patients, only one-third were seizure-free. Other challenges included polypharmacy, the use of valproate in women, and variable adherence. This points to a need for closer follow-up in patients with JME.Graphical abstract
Source: Epilepsy and Behavior - Category: Neurology Source Type: research

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Contributors : Tomassoni-Ardori Francesco ; Skyler Kuhn ; Vishal Koparde ; Lino TessarolloSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusBrain Derived Neurotrophic Factor (BDNF) is a potent modulator of brain synaptic plasticity. Signaling defects caused by dysregulation of its NTrk2 (TrkB) kinase (TrkB.FL) and truncated receptors (TrkB.T1) have been linked to the pathophysiology of several neurological and neurodegenerative disorders. We found that upregulation of Rbfox1, an RNA binding protein associated with intellectual disability, epilepsy and autism,  increases selectively...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
CONCLUSIONSCoverage guidelines for IMRT, SRS, SABR, and PBT vary across 5 major insurance providers and may be substantially discordant when compared to ASTRO coverage guidelines. There remain several specific areas where ongoing and future dialogue between ASTRO, payers, and policymakers remains essential.
Source: Practical Radiation Oncology - Category: Cancer & Oncology Source Type: research
Publication date: Available online 22 August 2019Source: Stem Cell ResearchAuthor(s): Natascia Malerba, Patrizia Benzoni, Gabriella Maria Squeo, Raffaella Milanesi, Federica Giannetti, Lynette G. Sadleir, Gemma Poke, Bartolomeo Augello, Anna Irma Croce, Andrea Barbuti, Giuseppe MerlaAbstractGNB5 loss-of-function pathogenic variant cause IDDCA, a rare autosomal recessive human genetic disease characterized by infantile onset of intellectual disability, sinus bradycardia, hypotonia, visual abnormalities, and epilepsy. We generated a human induced pluripotent stem cells (hiPSCs) from skin fibroblasts of a patient with the hom...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
CONCLUSION: All of these drugs, if accepted by the patient, can also have an additional, beneficial placebo effect, with the patient calming down more rapidly than could be explained on pharmacological grounds alone. It is, therefore, important in emergencies (as at other times) for the patient to be involved in treatment decisions to the greatest possible extent. PMID: 31431244 [PubMed - in process]
Source: Deutsches Arzteblatt International - Category: General Medicine Tags: Dtsch Arztebl Int Source Type: research
CONCLUSIONS: There was a great diversity of oral, craniofacial and systemic characteristic among the KS patients, suggesting that an inter-disciplinary approach should be taken for their dental treatment. PMID: 31433389 [PubMed - as supplied by publisher]
Source: Medicina Oral, Patologia Oral y Cirugia Bucal - Category: ENT & OMF Tags: Med Oral Patol Oral Cir Bucal Source Type: research
Source: Neurological Sciences - Category: Neurology Source Type: research
Source: BMJ News - Category: General Medicine Source Type: research
ConclusionsThis is the first report about the evaluation of AChE inhibitory activity and phytochemical profiles of D. auriculatum, led to the identification of 36 compounds including alkaloids and flavonoids, and five alkaloids exhibited a significant AChE inhibitory activity and had the potential as AChE inhibitors. This study provided scientific experimental basis for the traditional efficacy of neurological disease of the plant.Graphical abstract
Source: Journal of Ethnopharmacology - Category: Drugs & Pharmacology Source Type: research
We describe a 7-year-old boy presenting with a developmental encephalopathy, severe epilepsy, retinopathy with salt and pepper fundus, and ultrastructural skin alterations resembling a neuronal ceroid lipofuscinosis. Whole exome-sequencing detected biallelic variants in the ADSL gene (c.65C > T [p.(Ala22Val)] and c.340 T > C [p.(Tyr114His)]). The increase of SAICAR and S-Ado in blood and urine was consistent with the pattern of adenylosuccinate lyase deficiency (OMIM 103050). An unusual increase of AICAR, that was due to a residual ADSL enzyme activity of about 28%, was also detected.Neither salt and pepper...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
Authors: Seo JH, Lee YJ, Lee KH, Gireesh E, Skinner H, Westerveld M Abstract Advances in autoimmune encephalitis studies in the past 10 years have headed to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to the disorder. The disorder or syndrome has been linked to a wide variety of pathologic processes associated with the neural-specific autoantibodies targeting both intracellular and plasma membrane antigens. However, current criteria for autoimmune encephalitis are very dependent on antibody testing and response to immunotherapy, which might delay the diagnosis. T...
Source: Korean Journal of Pediatrics - Category: Pediatrics Tags: Korean J Pediatr Source Type: research
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