"Aims To some, the field of neurogenetics appears perplexing and indecipherable. In this volume, we will address this issue by providing clinicians with a framework for dealing with these disorders. This book is not intended to be an in-depth, comprehensive review of all neurogenetic conditions from 'A to Z'. Instead, we will provide a concise discussion using case studies to illustrate the most important and topical neurogenetic disorde ..."
Neurogenetics by ChristineKleinMd 208 Pages, Published 2014 by Oxford University Press ISBN-13: 978-0-19-938391-7, ISBN: 0-19-938391-X
"... Verbeek, N., VerschuurenBemelmans, C.,...& Kievit, A. (2012). PRRT2
phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile
convulsions. Neurology, 79, 777–784. Wang, J. L., Cao, L., Li, X. H., Hu, Z. M., Li
J. D., Zhang, J. G.,...& Tang, B. S. (2011). Identification of PRRT2 as the causative
gene of paroxysmal kinesigenic dyskinesias. Brain, 134, 3490–3498. Weber,
Y. G., Storch, A., Wuttke, T. V. Brockmann ..."
What Do I Do Now Neurogenetics by ChristineKleinMd 208 Pages, Published 2014 by Oxford University Press ISBN-13: 978-0-19-938390-0, ISBN: 0-19-938390-1
"... FRACP, Carolyn M. Sue MBBS, FRACP, PhD, Alexander M Prof Dr Med. As the
disease progresses, MRI may demonstrate cerebellar and generalized cerebral
atrophy. Also, in the latter stages of the disease, DWI-, FLAIR-, or T2 weighted
images can show signal abnormalities in the thalamus, caudate nucleus, frontal,
occipital, or insular cortex similar to sporadic CJD. □ Inherited prion disease
comprises about 15% of all human prion dis ..."