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New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics, An Issue of Pediatric Clinics of North America

Elsevier Title
ISBN: 978-0-323-38903-7

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New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics, An Issue of Pediatric Clinics of North America

By Gyula Acsadi, MD

Copyright 2015
$102.99, Online Product, Reference

A title in the The Clinics: Internal Medicine Series.

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Description

Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases. Genetic research uncovered many loss or gain of function mutations in genes that are associated with synaptic development and or remodeling. However, more an more data are accumulating regarding the importance in gene regulations in neurodevelopmental diseases. Thjis issue addresses many aspects of the genomics of neurodevelopmental diseases, including articles devoted to genomic variations of brain malformations; neuroimaging of brain development; update on autism evaluation and  genetics; prader-willi and angelman syndromes; tuberous sclerosis complex; genetics of pediatric epilepsy; pediatric leukodystrophies; autoimmune encephalopathies; inherited neuropathies and motor neuron diseases; and muscular dystrophies and congenital myopathies.

Author Information

By Gyula Acsadi, MD, Connecticut Children’s Hospital Medical Center, Hartford, CT

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