RT Book, Section
A1 Ropper, Allan H.
A1 Samuels, Martin A.
A1 Klein, Joshua P.
A1 Prasad, Sashank
SR Print(0)
ID 1162597479
T1 Developmental Diseases of the Nervous System
T2 Adams and Victor's Principles of Neurology, 11e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071842617
LK accessmedicine.mhmedical.com/content.aspx?aid=1162597479
RD 2024/04/19
AB This  broad  heading  subsumes  a  large  number  of  both  genetically  driven  developmental  malformations  and  diseases  acquired  during  intrauterine  or  early  neonatal  periods  of  life.  They  number  in  the  hundreds  according  to  the  tabulation  of  Dyken  and  Krawiecki  although  many,  if  not  most,  are  rare.  Taxonomically,  they  make  up  two  categories.  The  first  includes  specific  gene  defects,  either  mutations,  deletions,  or  duplications  of  parts  of  genes  (copy  number  variation),  or  single  nucleotide  polymorphisms  that  give  rise  to  developmental  aberrations  or  delays.  The  second  category  comprises  a  variety  of  environmental  and  infectious  agents  acting  at  different  times  on  the  immature  nervous  system  during  embryonal,  fetal,  and  perinatal  periods  of  life.