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https://www.readbyqxmd.com/read/29236669/-optically-dissecting-brain-nicotinic-receptor-function-with-photo-controllable-designer-receptors
#1
Romain Durand-de Cuttoli, Sarah Mondoloni, Alexandre Mourot
Nicotinic acetylcholine receptors (nAChRs) are pentameric ligand-gated ion channels widely expressed in the central nervous system and the periphery. They play an important modulatory role in learning, memory and attention, and have been implicated in various diseases such as Alzheimer's disease, Parkinson's disease, epilepsy, schizophrenia and addiction. These receptors are activated by the endogenous neurotransmitter acetylcholine, or by nicotine, the alkaloid found in tobacco leaves. Both molecules open the ion channel and cause the movement of cations across the membrane, which directly affects neuronal excitability and synaptic plasticity...
2017: Biologie Aujourd'hui
https://www.readbyqxmd.com/read/29227297/neuropsychiatric-effects-of-epilepsy-in-developmental-disorders
#2
Jay Salpekar
PURPOSE OF REVIEW: The overlap of neuropsychiatric illness and developmental disability continues to be prominently recognized in clinical practice and in the academic literature. Theoretical and practical considerations may represent a frontier for understanding brain and behavior relationships. The purpose of this review is to explore this common relationship and report on recent literature that helps advance the larger fields of psychiatry and neurology. RECENT FINDINGS: Overlap between developmental disability, epilepsy, and neuropsychiatric illness may be more common than originally thought...
December 7, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/29214565/intellectual-disability-rare-disorders-a-diagnostic-challenge
#3
Malin Kvarnung, Ann Nordgren
Rare disorders constitute a large and heterogeneous group of diagnoses of which many cause chronic disabilities with significant impact on the lives of affected individuals and their families as well as on the health-care system. Each individual disorder is rare, but when considered as a group, rare disorders are common with a total prevalence of approximately 6-8%. The clinical presentation of these disorders includes a broad diversity of symptoms and signs, often involving the nervous system and resulting in symptoms such as intellectual disability, neuropsychiatric disorders, epilepsy and motor dysfunction...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29163069/notes-on-the-recent-history-of-neuroscience-in-africa
#4
REVIEW
Vivienne A Russell
Neuroscience began with neuroanatomy and neurosurgery in Egypt more than 5000 years ago. Knowledge grew over time and specialized neurosurgery centers were established in north Africa in the eleventh century. However, it was not until the twentieth century that neuroscience research became established in sub-Saharan Africa. In most African countries, clinical research focused on understanding the rationale and improving treatment of epilepsy, infections, nutritional neuropathies, stroke and tumors. Significant advances were made...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/29142081/genetic-and-molecular-regulation-of-extrasynaptic-gaba-a-receptors-in-the-brain-therapeutic-insights-for-epilepsy
#5
Shu-Hui Chuang, Doodipala Samba Reddy
GABA-A receptors play a pivotal role in many brain diseases. Epilepsy is caused by acquired conditions and genetic defects in GABA receptor channels regulating neuronal excitability in the brain. The latter is referred to as GABA channelopathies. In the last two decades, major advances have been made in the genetics of epilepsy. The presence of specific GABAergic genetic abnormalities leading to some of the classical epileptic syndromes has been identified. Advances in molecular cloning and recombinant systems have helped characterize mutations in GABA-A receptor subunit genes in clinical neurology...
November 15, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29124671/mutations-of-n-methyl-d-aspartate-receptor-subunits-in-epilepsy
#6
REVIEW
Xing-Xing Xu, Jian-Hong Luo
Epilepsy is one of the most common neurological diseases. Of all cases, 70%-80% are considered to be due to genetic factors. In recent years, a large number of genes have been identified as being involved in epilepsy. Among them, N-methyl-D-aspartate receptor (NMDAR) subunit-encoding genes represent a large proportion, suggesting an important role for NMDARs in epilepsy. In this review, we summarize and analyze the genotypes, functional alterations, and clinical aspects of NMDAR subunit mutations/variants identified from patients with epilepsy...
November 10, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/29123470/regulation-of-ampa-receptor-trafficking-by-protein-ubiquitination
#7
REVIEW
Jocelyn Widagdo, Sumasri Guntupalli, Se E Jang, Victor Anggono
The molecular mechanisms underlying plastic changes in the strength and connectivity of excitatory synapses have been studied extensively for the past few decades and remain the most attractive cellular models of learning and memory. One of the major mechanisms that regulate synaptic plasticity is the dynamic adjustment of the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptor content on the neuronal plasma membrane. The expression of surface AMPA receptors (AMPARs) is controlled by the delicate balance between the biosynthesis, dendritic transport, exocytosis, endocytosis, recycling and degradation of the receptors...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29121005/de-novo-variants-in-the-alternative-exon-5-of-scn8a-cause-epileptic-encephalopathy
#8
(no author information available yet)
PurposeAs part of the Epilepsy Genetics Initiative, we re-evaluated clinically generated exome sequence data from 54 epilepsy patients and their unaffected parents to identify molecular diagnoses not provided in the initial diagnostic interpretation.MethodsWe compiled and analyzed exome sequence data from 54 genetically undiagnosed trios using a validated analysis pipeline. We evaluated the significance of the genetic findings by reanalyzing sequence data generated at Ambry Genetics, and from a number of additional case and control cohorts...
October 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29105074/common-data-elements-for-preclinical-epilepsy-research-standards-for-data-collection-and-reporting-a-task3-report-of-the-aes-ilae-translational-task-force-of-the-ilae
#9
Lauren C Harte-Hargrove, Jacqueline A French, Asla Pitkänen, Aristea S Galanopoulou, Vicky Whittemore, Helen E Scharfman
The major objective of preclinical translational epilepsy research is to advance laboratory findings toward clinical application by testing potential treatments in animal models of seizures and epilepsy. Recently there has been a focus on the failure of preclinical discoveries to translate reliably, or even to be reproduced in different laboratories. One potential cause is a lack of standardization in preclinical data collection. The resulting difficulties in comparing data across studies have led to high cost and missed opportunity, which in turn impede clinical trials and advances in medical care...
November 2017: Epilepsia
https://www.readbyqxmd.com/read/29105067/similarities-and-differences-in-neuroplasticity-mechanisms-between-brain-gliomas-and-nonlesional-epilepsy
#10
Pierre Bourdillon, Caroline Apra, Marc Guénot, Hugues Duffau
OBJECTIVE: To analyze the conceptual and practical implications of a hodotopic approach in neurosurgery, and to compare the similarities and the differences in neuroplasticity mechanisms between low-grade gliomas and nonlesional epilepsy. METHODS: We review the recent data about the hodotopic organization of the brain connectome, alongside the organization of epileptic networks, and analyze how these two structures interact, suggesting therapeutic prospects. Then we focus on the mechanisms of neuroplasticity involved in glioma natural course and after glioma surgery...
November 3, 2017: Epilepsia
https://www.readbyqxmd.com/read/29103291/current-and-future-uses-of-transcranial-focused-ultrasound-in-neurosurgery
#11
David S Hersh, Howard M Eisenberg
Focused ultrasound (FUS) produces a region of high intensity at the focal zone of the beam but with minimal effects at adjacent areas, allowing the sonication of deep targets throughout the body. Despite early obstacles to transmitting ultrasound energy through the skull, recent advances in ultrasound technology, software, and real-time monitoring have resulted in a renewed interest in the clinical applications of transcranial FUS. Following extensive pre- clinical studies, ultrasound-induced thermal ablation has been approved by several countries for the treatment of essential tremor, Parkinson's disease, obsessive-compulsive disorder, depression, and neuropathic pain...
November 3, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/29042871/application-of-array-comparative-genomic-hybridization-in-korean-children-under-6-years-old-with-global-developmental-delay
#12
Kyung Yeon Lee, Eunsim Shin
PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed...
September 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29032483/regulation-of-cardiac-voltage-gated-sodium-channel-by-kinases-roles-of-protein-kinases-a-and-c
#13
Ademuyiwa S Aromolaran, Mohamed Chahine, Mohamed Boutjdir
In the heart, voltage-gated sodium (Nav) channel (Nav1.5) is defined by its pore-forming α-subunit and its auxiliary β-subunits, both of which are important for its critical contribution to the initiation and maintenance of the cardiac action potential (AP) that underlie normal heart rhythm. The physiological relevance of Nav1.5 is further marked by the fact that inherited or congenital mutations in Nav1.5 channel gene SCN5A lead to altered functional expression (including expression, trafficking, and current density), and are generally manifested in the form of distinct cardiac arrhythmic events, epilepsy, neuropathic pain, migraine, and neuromuscular disorders...
October 15, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28990168/automated-analysis-of-seizure-semiology-and-brain-electrical-activity-in-presurgery-evaluation-of-epilepsy-a-focused-survey
#14
REVIEW
David Ahmedt-Aristizabal, Clinton Fookes, Sasha Dionisio, Kien Nguyen, João Paulo S Cunha, Sridha Sridharan
Epilepsy being one of the most prevalent neurological disorders, affecting approximately 50 million people worldwide, and with almost 30-40% of patients experiencing partial epilepsy being nonresponsive to medication, epilepsy surgery is widely accepted as an effective therapeutic option. Presurgical evaluation has advanced significantly using noninvasive techniques based on video monitoring, neuroimaging, and electrophysiological and neuropsychological tests; however, certain clinical settings call for invasive intracranial recordings such as stereoelectroencephalography (SEEG), aiming to accurately map the eloquent brain networks involved during a seizure...
November 2017: Epilepsia
https://www.readbyqxmd.com/read/28966631/primary-cilia-as-a-novel-horizon-between-neuron-and-environment
#15
REVIEW
Gregory W Kirschen, Qiaojie Xiong
The primary cilium, a hair-like sensory organelle found on most mammalian cells, has gained recent attention within the field of neuroscience. Although neural primary cilia have been known to play a role in embryonic central nervous system patterning, we are just beginning to appreciate their importance in the mature organism. After several decades of investigation and controversy, the neural primary cilium is emerging as an important regulator of neuroplasticity in the healthy adult central nervous system...
August 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28956955/a-resurging-boom-in-new-drugs-for-epilepsy-and-brain-disorders
#16
Iyan Younus, Doodipala Samba Reddy
Epilepsy is one of the most common neurological diseases affecting approximately 50 million people worldwide. Despite many advances in epilepsy research, nearly a third of patients with epilepsy have refractory or pharmacoresistant epilepsy. Despite the approval of a dozen antiepileptic drugs (AEDs) over the past decade, there are no agents that halt the development of epilepsy. Thus, newer and better AEDs that can prevent refractory seizures and modify the disease are needed for curing epilepsy. Areas covered: In this article, we highlight the recent advances and emerging trends in new and innovative drugs for epilepsy and seizure disorders...
October 23, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28936771/functional-investigation-of-a-grin2a-variant-associated-with-rolandic-epilepsy
#17
Xing-Xing Xu, Xiao-Rong Liu, Cui-Ying Fan, Jin-Xing Lai, Yi-Wu Shi, Wei Yang, Tao Su, Jun-Yu Xu, Jian-Hong Luo, Wei-Ping Liao
N-methyl-D-aspartate receptors (NMDARs), a subtype of glutamate-gated ion channels, play a central role in epileptogenesis. Recent studies have identified an increasing number of GRIN2A (a gene encoding the NMDAR GluN2A subunit) mutations in patients with epilepsy. Phenotypes of GRIN2A mutations include epilepsy-aphasia disorders and other epileptic encephalopathies, which pose challenges in clinical treatment. Here we identified a heterozygous GRIN2A mutation (c.1341T>A, p.N447K) from a boy with Rolandic epilepsy by whole-exome sequencing...
September 21, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28932874/-epilepsy-new-diagnostic-tools-old-drugs-therapeutic-consequences-of-epilepsy-genetics
#18
REVIEW
M Tacke, B A Neubauer, L Gerstl, T Roser, J Rémi, I Borggraefe
BACKGROUND: Recent advances in the field of epilepsy genetics have led to an increased fraction of patients with epilepsies where the etiology of the disease could be identified. Nevertheless, there is some criticism regarding the use of epilepsy genetics because in many cases the identification of a pathogenetic mutation does not lead to an adaptation of therapy or to an improved prognosis. In addition, the interpretation of genetic results might be complicated due to the considerable numbers of variants of unclear significance...
September 20, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28917501/personalized-translational-epilepsy-research-novel-approaches-and-future-perspectives-part-i-clinical-and-network-analysis-approaches
#19
REVIEW
Felix Rosenow, Natascha van Alphen, Albert Becker, Andreas Chiocchetti, Ralf Deichmann, Thomas Deller, Thomas Freiman, Christine M Freitag, Johannes Gehrig, Anke M Hermsen, Peter Jedlicka, Christian Kell, Karl Martin Klein, Susanne Knake, Dimitri M Kullmann, Stefan Liebner, Braxton A Norwood, Diana Omigie, Karlheinz Plate, Andreas Reif, Philipp S Reif, Yvonne Reiss, Jochen Roeper, Michael W Ronellenfitsch, Stephanie Schorge, Gerhard Schratt, Stephan W Schwarzacher, Joachim P Steinbach, Adam Strzelczyk, Jochen Triesch, Marlies Wagner, Matthew C Walker, Frederic von Wegner, Sebastian Bauer
Despite the availability of more than 15 new "antiepileptic drugs", the proportion of patients with pharmacoresistant epilepsy has remained constant at about 20-30%. Furthermore, no disease-modifying treatments shown to prevent the development of epilepsy following an initial precipitating brain injury or to reverse established epilepsy have been identified to date. This is likely in part due to the polyetiologic nature of epilepsy, which in turn requires personalized medicine approaches. Recent advances in imaging, pathology, genetics and epigenetics have led to new pathophysiological concepts and the identification of monogenic causes of epilepsy...
September 13, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28917498/personalized-translational-epilepsy-research-novel-approaches-and-future-perspectives-part-ii-experimental-and-translational-approaches
#20
REVIEW
Sebastian Bauer, Natascha van Alphen, Albert Becker, Andreas Chiocchetti, Ralf Deichmann, Thomas Deller, Thomas Freiman, Christine M Freitag, Johannes Gehrig, Anke M Hermsen, Peter Jedlicka, Christian Kell, Karl Martin Klein, Susanne Knake, Dimitri M Kullmann, Stefan Liebner, Braxton A Norwood, Diana Omigie, Karlheinz Plate, Andreas Reif, Philipp S Reif, Yvonne Reiss, Jochen Roeper, Michael W Ronellenfitsch, Stephanie Schorge, Gerhard Schratt, Stephan W Schwarzacher, Joachim P Steinbach, Adam Strzelczyk, Jochen Triesch, Marlies Wagner, Matthew C Walker, Frederic von Wegner, Felix Rosenow
Despite the availability of more than 15 new "antiepileptic drugs", the proportion of patients with pharmacoresistant epilepsy has remained constant at about 20-30%. Furthermore, no disease-modifying treatments shown to prevent the development of epilepsy following an initial precipitating brain injury or to reverse established epilepsy have been identified to date. This is likely in part due to the polyetiologic nature of epilepsy, which in turn requires personalized medicine approaches. Recent advances in imaging, pathology, genetics, and epigenetics have led to new pathophysiological concepts and the identification of monogenic causes of epilepsy...
September 13, 2017: Epilepsy & Behavior: E&B
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