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

Download or read book New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics, An Issue of Pediatric Clinics of North America written by Gyula Acsadi and published by Elsevier Health Sciences. This book was released on 2015-06-25 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.