New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics, An Issue of Pediatric Clinics of North America - 1st Edition - ISBN: 9780323389020, 9780323389037

New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics, An Issue of Pediatric Clinics of North America, Volume 62-3

1st Edition

Authors: Gyula Acsadi
eBook ISBN: 9780323389037
Hardcover ISBN: 9780323389020
Imprint: Elsevier
Published Date: 2nd June 2015
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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.


Details

Language:
English
Copyright:
© Elsevier 2015
Published:
Imprint:
Elsevier
eBook ISBN:
9780323389037
Hardcover ISBN:
9780323389020

About the Authors

Gyula Acsadi Author

Affiliations and Expertise

Connecticut Children’s Hospital Medical Center, Hartford, CT