Literature DB >> 34850739

All our knowledge begins with the antisenses.

Ethan M Goldberg1,2,3,4.   

Abstract

Epilepsy is the neurological disorder defined by spontaneous recurrent seizures, which are abnormal patterns of electrical discharge in the brain. A major advance in neurology over the last 20 years is the identification of genetic variation as an important cause of epilepsy, and in particular as a cause of the epileptic encephalopathies, defined by childhood-onset, treatment-resistant epilepsy accompanied by developmental delay leading to intellectual disability. Unfortunately, this progress in genetic diagnosis has yet to translate to effective precision or targeted therapeutics. However, in this issue of the JCI, Li and Jancovski et al. use antisense oligonucleotides (ASO) to treat or prevent epilepsy and epilepsy-associated cognitive and behavioral comorbidities in a mouse model of SCN2A encephalopathy, paralogous to the recurrent human variant SCN2A c.5645G>A (p.R1882Q) associated with epileptic encephalopathy. These findings may inform the development of targeted or personalized therapies for what is currently an incurable and largely untreatable disorder.

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Year:  2021        PMID: 34850739      PMCID: PMC8631590          DOI: 10.1172/JCI155233

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  21 in total

1.  Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

Authors:  Paolo Scalmani; Raffaella Rusconi; Elena Armatura; Federico Zara; Giuliano Avanzini; Silvana Franceschetti; Massimo Mantegazza
Journal:  J Neurosci       Date:  2006-10-04       Impact factor: 6.167

Review 2.  Therapeutic Antisense Oligonucleotides Are Coming of Age.

Authors:  C Frank Bennett
Journal:  Annu Rev Med       Date:  2019-01-27       Impact factor: 13.739

3.  Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

Authors:  Gemma L Carvill; Krysta L Engel; Aishwarya Ramamurthy; J Nicholas Cochran; Jolien Roovers; Hannah Stamberger; Nicholas Lim; Amy L Schneider; Georgie Hollingsworth; Dylan H Holder; Brigid M Regan; James Lawlor; Lieven Lagae; Berten Ceulemans; E Martina Bebin; John Nguyen; Gregory S Barsh; Sarah Weckhuysen; Miriam Meisler; Samuel F Berkovic; Peter De Jonghe; Ingrid E Scheffer; Richard M Myers; Gregory M Cooper; Heather C Mefford
Journal:  Am J Hum Genet       Date:  2018-12-06       Impact factor: 11.025

4.  Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Authors:  Markus Wolff; Katrine M Johannesen; Ulrike B S Hedrich; Silvia Masnada; Guido Rubboli; Elena Gardella; Gaetan Lesca; Dorothée Ville; Mathieu Milh; Laurent Villard; Alexandra Afenjar; Sandra Chantot-Bastaraud; Cyril Mignot; Caroline Lardennois; Caroline Nava; Niklas Schwarz; Marion Gérard; Laurence Perrin; Diane Doummar; Stéphane Auvin; Maria J Miranda; Maja Hempel; Eva Brilstra; Nine Knoers; Nienke Verbeek; Marjan van Kempen; Kees P Braun; Grazia Mancini; Saskia Biskup; Konstanze Hörtnagel; Miriam Döcker; Thomas Bast; Tobias Loddenkemper; Lily Wong-Kisiel; Friedrich M Baumeister; Walid Fazeli; Pasquale Striano; Robertino Dilena; Elena Fontana; Federico Zara; Gerhard Kurlemann; Joerg Klepper; Jess G Thoene; Daniel H Arndt; Nicolas Deconinck; Thomas Schmitt-Mechelke; Oliver Maier; Hiltrud Muhle; Beverly Wical; Claudio Finetti; Reinhard Brückner; Joachim Pietz; Günther Golla; Dinesh Jillella; Karen M Linnet; Perrine Charles; Ute Moog; Eve Õiglane-Shlik; John F Mantovani; Kristen Park; Marie Deprez; Damien Lederer; Sandrine Mary; Emmanuel Scalais; Laila Selim; Rudy Van Coster; Lieven Lagae; Marina Nikanorova; Helle Hjalgrim; G Christoph Korenke; Marina Trivisano; Nicola Specchio; Berten Ceulemans; Thomas Dorn; Katherine L Helbig; Katia Hardies; Hannah Stamberger; Peter de Jonghe; Sarah Weckhuysen; Johannes R Lemke; Ingeborg Krägeloh-Mann; Ingo Helbig; Gerhard Kluger; Holger Lerche; Rikke S Møller
Journal:  Brain       Date:  2017-05-01       Impact factor: 13.501

5.  Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.

Authors:  Laura A Foster; Maria R Johnson; John T MacDonald; Peter I Karachunski; Thomas R Henry; David R Nascene; Brian P Moran; Gerald V Raymond
Journal:  Pediatr Neurol       Date:  2016-10-18       Impact factor: 3.372

Review 6.  Progress in Understanding and Treating SCN2A-Mediated Disorders.

Authors:  Stephan J Sanders; Arthur J Campbell; Jeffrey R Cottrell; Rikke S Moller; Florence F Wagner; Angie L Auldridge; Raphael A Bernier; William A Catterall; Wendy K Chung; James R Empfield; Alfred L George; Joerg F Hipp; Omar Khwaja; Evangelos Kiskinis; Dennis Lal; Dheeraj Malhotra; John J Millichap; Thomas S Otis; Steven Petrou; Geoffrey Pitt; Leah F Schust; Cora M Taylor; Jennifer Tjernagel; John E Spiro; Kevin J Bender
Journal:  Trends Neurosci       Date:  2018-04-23       Impact factor: 13.837

7.  Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome.

Authors:  Zhou Han; Chunling Chen; Anne Christiansen; Sophina Ji; Qian Lin; Charles Anumonwo; Chante Liu; Steven C Leiser; Isabel Aznarez; Gene Liau; Lori L Isom
Journal:  Sci Transl Med       Date:  2020-08-26       Impact factor: 17.956

Review 8.  Targeting Poison Exons to Treat Developmental and Epileptic Encephalopathy.

Authors:  Miriam C Aziz; Patricia N Schneider; Gemma L Carvill
Journal:  Dev Neurosci       Date:  2021-05-10       Impact factor: 2.984

9.  Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression.

Authors:  Kian Huat Lim; Zhou Han; Hyun Yong Jeon; Jacob Kach; Enxuan Jing; Sebastien Weyn-Vanhentenryck; Mikaela Downs; Anna Corrionero; Raymond Oh; Juergen Scharner; Aditya Venkatesh; Sophina Ji; Gene Liau; Barry Ticho; Huw Nash; Isabel Aznarez
Journal:  Nat Commun       Date:  2020-07-09       Impact factor: 14.919

10.  Severe deficiency of the voltage-gated sodium channel NaV1.2 elevates neuronal excitability in adult mice.

Authors:  Jingliang Zhang; Xiaoling Chen; Muriel Eaton; Jiaxiang Wu; Zhixiong Ma; Shirong Lai; Anthony Park; Talha S Ahmad; Zhefu Que; Ji Hea Lee; Tiange Xiao; Yuansong Li; Yujia Wang; Maria I Olivero-Acosta; James A Schaber; Krishna Jayant; Chongli Yuan; Zhuo Huang; Nadia A Lanman; William C Skarnes; Yang Yang
Journal:  Cell Rep       Date:  2021-08-03       Impact factor: 9.423

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