Practical Guide To Neurogenetics E Book
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Practical Guide to Neurogenetics E-Book
Author: Thomas T. Warner
language: en
Publisher: Elsevier Health Sciences
Release Date: 2008-11-04
This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.
Swaiman's Pediatric Neurology - E-Book
Author: Stephen Ashwal
language: en
Publisher: Elsevier Health Sciences
Release Date: 2025-05-09
**Selected for 2025 Doody's Core Titles® in Pediatrics and with "Essential Purchase" designation in Neurology**For fifty years, experienced clinicians and physicians in training have relied on Swaiman's cornerstone text as their #1 source for authoritative guidance in pediatric neurology. Swaiman's Pediatric Neurology: Principles and Practice, Seventh Edition, continues this tradition of excellence under the expert editorial direction of Drs. Stephen Ashwal and Phillip L. Pearl, along with a team of key leaders in the field who serve as associate and section editors in their areas of expertise. Thorough revisions—including new chapters, new videos, new editors, and expanded content—bring you up to date with this dynamic field. - Contains new sections on global child neurology and environment and brain development and a greatly expanded section on neurogenetics, in addition to new chapters on autoimmune epilepsies, immune-mediated movement disorders, and more. - Offers expanded online content, including additional figures, tables, and text, as well as new personal introductory videos by many chapter authors. - Covers new, emerging, or controversial topics such as COVID-19, teleneurology, environment and brain development, immune-mediated disorders of the nervous system, functional neurological disorders in children, nonverbal learning disorders, and the pharmacological and future genetic treatment of neurodevelopmental disabilities. - Provides authoritative coverage of perinatal acquired and congenital disorders, neurodevelopmental disabilities, extensive sections on pediatric epilepsy and movement disorders, nonepileptiform paroxysmal disorders, and disorders of sleep. - Features nearly 3,000 line drawings, photographs, tables, and boxes that highlight the text, clarify key concepts, and make it easy to find information quickly.
Neurogenetics for the Practitioner
Neurogenetics is a growing field, providing a clear link between clinical characteristics of phenotypes and exact molecular tests to reach a specific diagnosis. Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. The first section introduces the reader to an overview of genetic principles, including practical applications in relation to diagnosis and current limitations. Additional chapters highlight how to workup patients presenting with certain features including cerebral palsy/intellectual disability, congenital muscular dystrophy, cognitive decline/dementia, peripheral neuropathy, and paroxysmal disorder. The final section explores therapeutic strategies based on genetic interventions and genetic counselling options. Internationally contributed, this book will become the essential reference guide for neurologist. - Reviews genetic testing for diagnostic confirmation, including carrier testing and prenatal diagnosis - Explores various therapeutic strategies based on genetic interventions - Discusses when a neurologic problem may have an underlying genetic cause