Literature DB >> 34642905

Electrophysiological Biomarkers in Genetic Epilepsies.

Caren Armstrong1, Eric D Marsh2,3.   

Abstract

Precision treatments for epilepsy targeting the underlying genetic diagnoses are becoming a reality. Historically, the goal of epilepsy treatments was to reduce seizure frequency. In the era of precision medicine, however, outcomes such as prevention of epilepsy progression or even improvements in cognitive functions are both aspirational targets for any intervention. Developing methods, both in clinical trial design and in novel endpoints, will be necessary for measuring, not only seizures, but also the other neurodevelopmental outcomes that are predicted to be targeted by precision treatments. Biomarkers that quantitatively measure disease progression or network level changes are needed to allow for unbiased measurements of the effects of any gene-level treatments. Here, we discuss some of the promising electrophysiological biomarkers that may be of use in clinical trials of precision therapies, as well as the difficulties in implementing them.
© 2021. The American Society for Experimental NeuroTherapeutics, Inc.

Entities:  

Keywords:  Biomarker; Developmental encephalopathy; Precision treatment

Mesh:

Substances:

Year:  2021        PMID: 34642905      PMCID: PMC8609056          DOI: 10.1007/s13311-021-01132-4

Source DB:  PubMed          Journal:  Neurotherapeutics        ISSN: 1878-7479            Impact factor:   6.088


  107 in total

1.  Middle and short latency somatosensory evoked potentials (SEPm, SEPs) in the Rett syndrome: chronological changes of cortical and subcortical involvements.

Authors:  K Kimura; Y Nomura; M Segawa
Journal:  Brain Dev       Date:  1992-05       Impact factor: 1.961

2.  Feasibility of using auditory event-related potentials to investigate learning and memory in nonverbal individuals with Angelman syndrome.

Authors:  Alexandra P Key; Dorita Jones; Sarika Peters; Caitlin Dold
Journal:  Brain Cogn       Date:  2018-11-22       Impact factor: 2.310

3.  Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.

Authors:  John W Day; Richard S Finkel; Claudia A Chiriboga; Anne M Connolly; Thomas O Crawford; Basil T Darras; Susan T Iannaccone; Nancy L Kuntz; Loren D M Peña; Perry B Shieh; Edward C Smith; Jennifer M Kwon; Craig M Zaidman; Meredith Schultz; Douglas E Feltner; Sitra Tauscher-Wisniewski; Haojun Ouyang; Deepa H Chand; Douglas M Sproule; Thomas A Macek; Jerry R Mendell
Journal:  Lancet Neurol       Date:  2021-03-17       Impact factor: 44.182

4.  A randomized controlled clinical trial of intravitreous fomivirsen for treatment of newly diagnosed peripheral cytomegalovirus retinitis in patients with AIDS.

Authors: 
Journal:  Am J Ophthalmol       Date:  2002-04       Impact factor: 5.258

5.  Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex.

Authors:  Ling-Hui Zeng; Lin Xu; David H Gutmann; Michael Wong
Journal:  Ann Neurol       Date:  2008-04       Impact factor: 10.422

6.  Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.

Authors:  Katarzyna Kotulska; Dariusz Chmielewski; Julita Borkowska; Elżbieta Jurkiewicz; Dariusz Kuczyński; Tomasz Kmieć; Barbara Łojszczyk; Dorota Dunin-Wąsowicz; Sergiusz Jóźwiak
Journal:  Eur J Paediatr Neurol       Date:  2013-04-06       Impact factor: 3.140

7.  Lack of response to quinidine in KCNT1-related neonatal epilepsy.

Authors:  Adam L Numis; Umesh Nair; Anita N Datta; Tristan T Sands; Michael S Oldham; Akash Patel; Melody Li; Elena Gazina; Steven Petrou; Maria Roberta Cilio
Journal:  Epilepsia       Date:  2018-09-04       Impact factor: 5.864

8.  Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results.

Authors:  Eriene A Youssef; Elizabeth Berry-Kravis; Christian Czech; Randi J Hagerman; David Hessl; Chin Y Wong; Michael Rabbia; Dennis Deptula; Amy John; Russell Kinch; Philip Drewitt; Lothar Lindemann; Moritz Marcinowski; Rachel Langland; Carsten Horn; Paulo Fontoura; Luca Santarelli; Jorge A Quiroz
Journal:  Neuropsychopharmacology       Date:  2017-08-17       Impact factor: 7.853

9.  Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis.

Authors:  Michael S Sidorov; Gina M Deck; Marjan Dolatshahi; Ronald L Thibert; Lynne M Bird; Catherine J Chu; Benjamin D Philpot
Journal:  J Neurodev Disord       Date:  2017-05-08       Impact factor: 4.025

10.  JAKE® Multimodal Data Capture System: Insights from an Observational Study of Autism Spectrum Disorder.

Authors:  Seth L Ness; Nikolay V Manyakov; Abigail Bangerter; David Lewin; Shyla Jagannatha; Matthew Boice; Andrew Skalkin; Geraldine Dawson; Yvette M Janvier; Matthew S Goodwin; Robert Hendren; Bennett Leventhal; Frederick Shic; Walter Cioccia; Gahan Pandina
Journal:  Front Neurosci       Date:  2017-09-26       Impact factor: 4.677

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