TY - JOUR
T1 - Neonatal and infantile epilepsy
T2 - Acquired and genetic models
AU - Galanopoulou, Aristea S.
AU - Moshé, Solomon L.
N1 - Funding Information:
A.S.G. receives research funding from The National Institute of Neurological Disorders and Stroke (NINDS) NS078333, U.S. Department of Defense (W81XWH-13-1-0180) CURE, UCB, the Heffer Family and the Segal Family Foundations, and the Abbe Goldstein/Joshua Lurie and Laurie Marsh/Dan Levitz families. She has received royalties for book publishing from Morgan and Claypool Publishers, honoraria from the Department of Defense (grant reviews), John Libbey Eurotext, and Elsevier (publications). S.L.M. is the Charles Frost Chair in Neurosurgery and Neurology and is funded by grants from National Institutes of Health (NIH) NS43209, NS20253, NS45911, NS-78333, CURE, U.S. Department of Defense (W81XWH-13-1-0180), UCB, the Heffer Family and the Segal Family Foundations, and the Abbe Goldstein/Joshua Lurie and Laurie Marsh/Dan Levitz families. He receives from Elsevier an annual compensation for his work as Associate Editor in Neurobiology of Disease and royalties from two books that he coedited. He received a consultant fee from Lundbeck and UCB. There are no conflicts of interest related to this manuscript.
Publisher Copyright:
© 2016 Cold Spring Harbor Laboratory Press.
PY - 2016/1
Y1 - 2016/1
N2 - The incidence of seizures and epilepsies is particularly high during the neonatal and infantile periods.We will review selected animal models of early-life epileptic encephalopathies that have addressed the dyscognitive features of frequent interictal spikes, the pathogenesis and treatments of infantile spasms (IS) or Dravet syndrome, disorders with mammalian target of rapamycin (mTOR) dysregulation, and selected early-life epilepsies with genetic defects. Potentially pathogenic mechanisms in these conditions include interneuronopathies in IS or Dravet syndrome andmTORdysregulation in brain malformations, tuberous sclerosis, and related genetic disorders, or IS of acquired etiology. These models start to generate the first therapeutic drugs, which have been specifically developed in immature animals. However, there are challenges in translating preclinical discoveries into clinically relevant findings. The advances made so far hold promise that the newinsights may potentially have curative or disease-modifying potential for many of these devastating conditions.
AB - The incidence of seizures and epilepsies is particularly high during the neonatal and infantile periods.We will review selected animal models of early-life epileptic encephalopathies that have addressed the dyscognitive features of frequent interictal spikes, the pathogenesis and treatments of infantile spasms (IS) or Dravet syndrome, disorders with mammalian target of rapamycin (mTOR) dysregulation, and selected early-life epilepsies with genetic defects. Potentially pathogenic mechanisms in these conditions include interneuronopathies in IS or Dravet syndrome andmTORdysregulation in brain malformations, tuberous sclerosis, and related genetic disorders, or IS of acquired etiology. These models start to generate the first therapeutic drugs, which have been specifically developed in immature animals. However, there are challenges in translating preclinical discoveries into clinically relevant findings. The advances made so far hold promise that the newinsights may potentially have curative or disease-modifying potential for many of these devastating conditions.
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U2 - 10.1101/cshperspect.a022707
DO - 10.1101/cshperspect.a022707
M3 - Article
C2 - 26637437
AN - SCOPUS:84953230780
SN - 2157-1422
VL - 6
JO - Cold Spring Harbor perspectives in medicine
JF - Cold Spring Harbor perspectives in medicine
IS - 1
ER -