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Basal ganglia: physiological, behavioral, and computational studies

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Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889193882 Year: Pages: 494 DOI: 10.3389/978-2-88919-388-2 Language: English
Publisher: Frontiers Media SA
Subject: Science (General)
Added to DOAB on : 2015-12-03 13:02:24
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Abstract

The basal ganglia has received much attention over the last two decades, as it has been implicated in many neurological and psychiatric disorders. Most of this research - in both animals and humans - attempt to understand the neural and biochemical substrates of basic motor and learning processes, and how these are affected in human patients as well as animal models of brain disorders. The current volume contains research articles and reviews describing basic, pre-clinical and clinical neuroscience research of the basal ganglia written by attendees of the 11th Triennial Meeting of the International Basal Ganglia Society (IBAGS) that was held March 3-7th, 2013 at the Princess Hotel, Eilat, Israel and by researchers of the basal ganglia. Specifically, articles in this volume include research reports on the biochemistry, computational theory, anatomy and physiology of single neurons and functional circuitry of the basal ganglia networks as well as the latest data on animal models of basal ganglia dysfunction and clinical studies in human patients.

Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping

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ISBN: 9783039216109 / 9783039216116 Year: Pages: 94 DOI: 10.3390/books978-3-03921-611-6 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Medicine (General) --- Neurology
Added to DOAB on : 2019-12-09 11:49:16
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The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient’s perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.

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