TY - JOUR
T1 - New and emerging pharmacologic treatments for developmental and epileptic encephalopathies
AU - Vasquez, Alejandra
AU - Buraniqi, Ersida
AU - Wirrell, Elaine C.
N1 - Publisher Copyright:
© 2022 Lippincott Williams and Wilkins. All rights reserved.
PY - 2022/4/1
Y1 - 2022/4/1
N2 - Purpose of reviewSummarize evidence on Developmental and Epileptic Encephalopathies (DEEs) treatments focusing on new and emerging pharmacologic therapies (see Video, http://links.lww.com/CONR/A61, Supplementary Digital Content 1, which provides an overview of the review).Recent findingsAdvances in the fields of molecular genetics and neurobiology have led to the recognition of underlying pathophysiologic mechanisms involved in an increasing number of DEEs that could be targeted with precision therapies or repurposed drugs, some of which are currently being evaluated in clinical trials. Prompt, optimal therapy is critical, and promising therapies approved or in clinical trials for tuberous sclerosis complex, Dravet and Lennox-Gastaut Syndromes including mammalian target of rapamycin inhibitors, selective membrane channel and antisense oligonucleotide modulation, and repurposed drugs such as fenfluramine, stiripentol and cannabidiol, among others, may improve seizure burden and neurological outcomes. There is an urgent need for collaborative efforts to evaluate the efficacy and safety of emerging DEEs therapies.SummaryDevelopment of new therapies promise to address unmet needs for patients with DEEs, including improvement of neurocognitive function and quality of life.
AB - Purpose of reviewSummarize evidence on Developmental and Epileptic Encephalopathies (DEEs) treatments focusing on new and emerging pharmacologic therapies (see Video, http://links.lww.com/CONR/A61, Supplementary Digital Content 1, which provides an overview of the review).Recent findingsAdvances in the fields of molecular genetics and neurobiology have led to the recognition of underlying pathophysiologic mechanisms involved in an increasing number of DEEs that could be targeted with precision therapies or repurposed drugs, some of which are currently being evaluated in clinical trials. Prompt, optimal therapy is critical, and promising therapies approved or in clinical trials for tuberous sclerosis complex, Dravet and Lennox-Gastaut Syndromes including mammalian target of rapamycin inhibitors, selective membrane channel and antisense oligonucleotide modulation, and repurposed drugs such as fenfluramine, stiripentol and cannabidiol, among others, may improve seizure burden and neurological outcomes. There is an urgent need for collaborative efforts to evaluate the efficacy and safety of emerging DEEs therapies.SummaryDevelopment of new therapies promise to address unmet needs for patients with DEEs, including improvement of neurocognitive function and quality of life.
KW - developmental delay
KW - encephalopathy
KW - genetics
KW - pediatric
KW - refractory epilepsy
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U2 - 10.1097/WCO.0000000000001029
DO - 10.1097/WCO.0000000000001029
M3 - Review article
C2 - 35102126
AN - SCOPUS:85125554683
SN - 1350-7540
VL - 35
SP - 145
EP - 154
JO - Current opinion in neurology
JF - Current opinion in neurology
IS - 2
ER -