References
- Shorvon S, Guerrini R, Schachter S, et al., eds. The Causes of Epilepsy: common and Uncommon Causes in Adults and Children. 2nded. Cambridge University Press: Cambridge; 2019.
- Scala M, Bianchi A, Bisulli F, et al. Advances in genetic testing and optimization of clinical management in children and adults with epilepsy. Expert Rev Neurother. 20(3): 251–269. 2020.
- Engel J. What can we do for people with drug-resistant epilepsy? Neurology. 2016;87(23):2483–2489.
- Löscher W, Potschka H, Sisodiya SM, et al. Drug Resistance in Epilepsy: clinical Impact, Potential Mechanisms, and New Innovative Treatment Options. Pharmacol Rev. 2020;72(3):606–638.
- McTague A, Howell KB, Cross JH, et al. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol. 2016;15(3):304–316.
- Wolking S, Schulz H, Nies AT, et al. Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study. Pharmacogenomics. 2020;21(5):325–335.
- Wirrell EC, Nabbout R. Recent Advances in the Drug Treatment of Dravet Syndrome. CNS Drugs. 2019;33(9):867–881.
- Thiele EA, Marsh ED, French JA, et al. Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial. Lancet. 391(10125): 1085–1096. 2018.
- Jeong A, Nakagawa JA, Wong M. Predictors of drug-resistant epilepsy in tuberous sclerosis complex. J Child Neurol. 2017;32(14):1092–1098.
- Epilepsy Foundation Pipeline Tracker. [2021 Jan 26]. Available at: https://www.epilepsy.com/pipeline-listing-page.
- Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 58(4): 512–521. 2017.
- Wang J, Lin Z-J, Liu L, et al. Epilepsy-associated genes. Seizure. 2017;44:11–20.
- Balestrini S, and Sisodiya SM. Pharmacogenomics in epilepsy. Neurosci Lett. 2018 Feb 22;27–39.
- Striano P, Zara F. Genetic epilepsies. Eur J Paediatr Neurol. 2011;15(1):88–89.
- Ritter DM, Holland K. Genetic Testing in Epilepsy. Semin Neurol. 2020;40(6):730–738.
- Adam MP, Ardinger HH, Pagon RA, et al. eds. GeneReviews®. University of Washington. Seattle: Seattle (WA); 1993-2021.
- Online Mendelian Inheritance in Man®. An Online Catalog of Human Genes and Genetic Disorders. [ cited 2021 Jan 18]. Available at: https://www.omim.org/.
- International League Against Epilepsy. EpilepsyDiagnosis.org - Diagnostic manual. [cited 2021 Mar 24]. Available at: https://www.epilepsydiagnosis.org/.
- Cornet MC, and Cilio MR. Chapter 20 - Genetics of neonatal-onset epilepsies. In: De Vries LS, and Glass HC, editors. Handb. Clin. Neurol. New York: Elsevier; 2019. p. 415–433.
- Epilepsy Foundation End Epilepsy Together [cited 2020 Mar 5]. Available at: https://www.epilepsy.com/learn/types-epilepsy-syndrome.
- U.S. Food and Drug Administration. FDA Approves First Drug Comprised of an Active Ingredient Derived from Marijuana to Treat Rare, Severe Forms of Epilepsy. FDA. [cited 2021 Jan 1]. Available at: https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-comprised-active-ingredient-derived-marijuana-treat-rare-severe-forms.
- U.S. Food and Drug Administration. FDA Approves New Indication for Drug Containing an Active Ingredient Derived from Cannabis to Treat Seizures in Rare Genetic Disease. FDA. [ cited 2020 Mar 5]. cited: https://www.fda.gov/news-events/press-announcements/fda-approves-new-indication-drug-containing-active-ingredient-derived-cannabis-treat-seizures-rare.
- European Medicines Agency. Epidyolex - European public assessment report. [ cited 2021 Jan 2]. Available at: https://www.ema.europa.eu/en/medicines/human/EPAR/epidyolex.
- Lattanzi S, Brigo F, Trinka E, et al. Adjunctive Cannabidiol in Patients with Dravet Syndrome: a Systematic Review and Meta-Analysis of Efficacy and Safety. CNS Drugs. 34(3): 229–241. 2020.
- Chesney E, Oliver D, Green A, et al. Adverse effects of cannabidiol: a systematic review and meta-analysis of randomized clinical trials. Neuropsychopharmacology. 45(11): 1799–1806. 2020.
- Greenwich Biosciences, Inc. EPIDIOLEX® (cannabidiol) oral solution full prescribing information. [cited 2021 Jan 2]. Available at: https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/210365s008lbl.pdf.
- Devinsky O, Patel AD, Cross JH, et al. Effect of Cannabidiol on Drop Seizures in the Lennox–Gastaut Syndrome. N Engl J Med. 378(20): 1888–1897. 2018.
- Devinsky O, Cross JH, Laux L, et al. Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. N Engl J Med. 376(21): 2011–2020. 2017.
- Ea T, Em B, Bhathal H, et al., Add-On Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex. JAMA Neurol. 78(3): 285–292. 2021.
- Arzimanoglou A, Brandl U, Cross JH, et al. Epilepsy and cannabidiol: a guide to treatment. Epileptic Disord. 2020;22:1–14.
- Chiron C. Stiripentol. Expert Opin Investig Drugs. 2005;14(7):905–911.
- Perry MS. New and Emerging Medications for Treatment of Pediatric Epilepsy. Pediatr Neurol. 2020;107:24–27.
- European Medicines Agency. Stiripentol (Diacomit): EU summary of product characteristics. [ cited 2021 Jan 14]. Available at: https://www.ema.europa.eu/en/documents/product-information/diacomit-epar-product-information_en.pdf.
- CRI. PrDiacomitTM (stiripentol capsules; powder for suspension): Canadian product monograph. [ cited 2021 Jan 14]. Available at: https://pdf.hres.ca/dpd_pm/00022311.PDF.
- Meiji Seika Pharma Co. Ltd. Stiripentol (Diacomit): Japanese prescribing information. [ cited 2021 Jan 14]. Available at: https://www.pmda.go.jp/PmdaSearch/iyakuDetail/GeneralList/1139011.
- U.S. Food and Drug Administration. Drug Approval Package: diacomit (stiripentol). [cited 2021 Jan 17]. Available at: https://www.accessdata.fda.gov/drugsatfda_docs/nda/2018/206709Orig1s000,207223Orig1s000TOC.cfm.
- Quilichini PP, Chiron C, Ben‐Ari Y, et al. Stiripentol, a Putative Antiepileptic Drug, Enhances the Duration of Opening of GABAA-Receptor Channels. Epilepsia. 2006;47(4):704–716.
- Sada N, Lee S, Katsu T, et al. LDH enzymes with a stiripentol analog to treat epilepsy. Science. 2015;347(6228):1362–1367.
- Verleye M, Buttigieg D, Steinschneider R. Neuroprotective activity of stiripentol with a possible involvement of voltage-dependent calcium and sodium channels. J Neurosci Res. 2016;94:179–189.
- Chiron C, Marchand MC, Tran A, et al. Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. Lancet. 356(9242): 1638–1642. 2000.
- Guerrini R, Tonnelier S, D´athis P, et al. Stiripentol in severe myoclonic epilepsy in infancy (SMEI): a placebo-controlled Italian trial [abstract no. P496]. Epilepsia. 2002;43:155.
- Inoue Y, Ohtsuka Y. STP-1 Study Group. Effectiveness of add-on stiripentol to clobazam and valproate in Japanese patients with Dravet syndrome: additional supportive evidence. Epilepsy Res. 2014;108(4):725–731.
- Mudigoudar B, Weatherspoon S, Wheless JW. Emerging Antiepileptic Drugs for Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016;23(2):167–179.
- Abenhaim L, Moride Y, Brenot F, et al. Appetite-Suppressant Drugs and the Risk of Primary Pulmonary Hypertension. N Engl J Med. 1996;335:609–616.
- Connolly HM, Crary JL, McGoon MD, et al. Valvular Heart Disease Associated with Fenfluramine–Phentermine. N Engl J Med. 1997;337(9):581–588.
- Onakpoya IJ, Heneghan CJ, Aronson JK. Worldwide withdrawal of medicinal products because of adverse drug reactions: a systematic review and analysis. Crit Rev Toxicol. 2016;46(6):477–489.
- Schoonjans A-S, Marchau F, Paelinck BP, et al. Cardiovascular safety of low-dose fenfluramine in Dravet syndrome: a review of its benefit-risk profile in a new patient population. Curr Med Res Opin. 2017;33(10):1773–1781.
- U.S. Food and Drug Administration. FDA Approves New Therapy for Dravet Syndrome. [ cited 2021 Jan 15]. Available at: https://www.fda.gov/news-events/press-announcements/fda-approves-new-therapy-dravet-syndrome.
- Lagae L, Schoonjans A-S, Gammaitoni AR, et al. A pilot, open-label study of the effectiveness and tolerability of low-dose ZX008 (fenfluramine HCl) in Lennox-Gastaut syndrome. Epilepsia. 2018;59(10):1881–1888.
- Meglio M. Fenfluramine Demonstrates Efficacy in Lennox-Gastaut Syndrome in Phase 3 Results. [cited 2021 Mar 24]. Available at: https://www.neurologylive.com/view/fenfluramine-demonstrates-efficacy-in-lennox-gastaut-syndrome-in-phase-3-results.
- Knupp K, Scheffer I, Ceulemans B, et al. Efficacy and safety of FINTEPLA (fenfluramine) for the treatment of seizures associated with Lennox-Gastaut syndrome: a randomized, double-blind, placebo-controlled clinical trial. Presented at the Virtual American Epilepsy Society (AES) 2020 Annual Meeting; December 4–8, 2020. Abstract 852. [cited 2021 Mar 24]. Available at: https://zogenix-pharmawrite.ipostersessions.com/Default.aspx?s=EB-5F-AF-35-5D-BD-B7-B4-45-A7-1D-D6-E7-B4-72-94.
- U.S. Food and Drug Administration. FINTEPLA® (fenfluramine)- highlights of prescribing information. [ cited 2021 Jan 16]. Available at: https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/212102s000lbl.pdf.
- Martin P, Pam De W, Maurice T, et al. Fenfluramine acts as a positive modulator of sigma-1 receptors. Epilepsy Behav. 2020;105:106989.
- Lagae L, Sullivan J, Knupp K, et al. Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial. Lancet. 394(10216): 2243–2254. 2019.
- Nabbout R, Mistry A, Zuberi S, et al. Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens. JAMA Neurol. 77(3): 300–308. 2020.
- Franz DN. Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis. Expert Rev Anticancer Ther. 2011;11(8):1181–1192.
- European Medicines Agency. Votubia (everolimus). [cited 2021 Mar 24]. Available at: https://www.ema.europa.eu/en/medicines/human/EPAR/votubia#product-information-section.
- Nelson R FDA Approves Everolimus for Renal Angiomyolipomas. [cited 2021 Mar 24]. Available at: https://www.medscape.com/viewarticle/762813.
- Nelson R FDA Approves Pediatric Everolimus for Treatment of SEGA. [cited 2021 Mar 24]. Available at: https://www.medscape.com/viewarticle/770038.
- U.S. Food and Drug Administration. FDA approves everolimus for tuberous sclerosis complex-associated partial-onset seizures. [ cited 2021 Mar 24]. Available at: https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-everolimus-tuberous-sclerosis-complex-associated-partial-onset-seizures.
- Novartis Pharmaceuticals Corporation. AFINITOR® (everolimus) tablets, for oral use AFINITOR DISPERZ® (everolimus tablets for oral suspension) full prescribing information. [ cited 2021 Mar 24]. Available at: https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/022334s044,203985s016lbl.pdf.
- Lechuga L, Franz DN. Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures. Expert Rev Neurother. 2019;19(10):913–925.
- Mechanistic CP. Target of Rapamycin (mTOR) in Tuberous Sclerosis Complex-Associated Epilepsy. Pediatr Neurol. 2015;52(3):281–289.
- French JA, Lawson JA, Yapici Z, et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 388(10056): 2153–2163. 2016.
- Franz DN, Lawson JA, Yapici Z, et al. Everolimus for treatment-refractory seizures in TSC: extension of a randomized controlled trial. Neurol Clin Pract. 2018;8(5):412–420.
- ClinicalTrials.gov. Identifier NCT03572933, Study of Adjunctive Ganaxolone Treatment in Children and Young Adults With CDKL5 Deficiency Disorder. [ cited 2021 Jan 21]. Available at: https://clinicaltrials.gov/ct2/show/NCT03572933.
- ClinicalTrials.gov. Identifier NCT03865732, Study of Adjunctive Ganaxolone Treatment in Female Children With Protocadherin 19 (PCDH19)-Related Epilepsy (Violet Study). [cited 2021 Jan 28]. Available at: https://clinicaltrials.gov/ct2/show/NCT03865732.
- ClinicalTrials.gov. Identifier NCT02358538, A Multicenter, Open-Label Proof-of-Concept Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies. [cited 2021 Jan 21]. Available at: https://clinicaltrials.gov/ct2/show/NCT02358538.
- ClinicalTrials.gov. Identifier NCT04285346, Adjunctive Ganaxolone Treatment (Part A) in TSC Followed by Long-term Treatment (Part B). [cited 2021 Jan 21]. Available at: https://clinicaltrials.gov/ct2/show/NCT04285346.
- ClinicalTrials.gov. Identifier NCT03941444, ANAVEX2-73 Study in Patients With Rett Syndrome (AVATAR). [ cited 2021 Jan 21]. Available at: https://clinicaltrials.gov/ct2/show/NCT03941444.
- ClinicalTrials.gov. Identifier NCT04304482, ANAVEX2-73 Study in Pediatric Patients With Rett Syndrome (EXCELLENCE). [ cited 2021 Jan 21]. Available at: https://clinicaltrials.gov/ct2/show/NCT04304482.
- Bird LM, Ochoa-Lubinoff C, Tan W-H, et al. The STARS Phase 2 Study: a Randomized Controlled Trial of Gaboxadol in Angelman Syndrome. Neurology. 2021;96(7):e1024–e1035.
- ClinicalTrials.gov. Identifier NCT04106557, A Study of OV101 in Individuals With Angelman Syndrome (AS) (Neptune). [ cited2021 Jan 21]. Available at: https://clinicaltrials.gov/ct2/show/NCT04106557.
- ClinicalTrials.gov. Identifier NCT04572243, A Study of Lorcaserin as Adjunctive Treatment in Participants With Dravet Syndrome (MOMENTUM 1). [ cited 2021 Jan 23]. Available at: https://clinicaltrials.gov/ct2/show/NCT04572243.
- ClinicalTrials.gov. Identifier NCT02758626, Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome. [cited 2021 Jan 26]. Available at: https://clinicaltrials.gov/ct2/show/record/NCT02758626.
- ClinicalTrials.gov. Identifier NCT02829827, A Phase 2 Study of Radiprodil in Subjects With Drug-resistant Infantile Spasms (IS). [cited 2021 Mar 25]. Available at: https://clinicaltrials.gov/ct2/show/NCT02829827.
- ClinicalTrials.gov. Identifier NCT03635073, A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of TAK-935 (OV935) as Adjunctive Therapy in Patients With Rare Epilepsy (Endymion). [cited 2021 Mar 25]. Available at: https://clinicaltrials.gov/ct2/show/NCT03635073.
- ClinicalTrials.gov. Identifier NCT03650452, A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Participants With Developmental and/or Epileptic Encephalopathies (ELEKTRA). [cited 2021 Mar 25]. Available at: https://clinicaltrials.gov/ct2/show/NCT03650452.
- ClinicalTrials.gov. Identifier NCT03694275, A Multicenter, Open-label, Pilot Study of TAK-935 (OV935) in Participants With 15Q Duplication Syndrome or Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (ARCADE STUDY). [ cited 2021 Mar 25]. Available at: https://clinicaltrials.gov/ct2/show/NCT03694275.
- ClinicalTrials.gov. Identifier NCT04462770, A Trial of EPX-100 (Clemizole Hydrochloride) as an Add-on Therapy in Children With Dravet Syndrome. [cited 2021 Jan 29]. Available at: https://clinicaltrials.gov/ct2/show/NCT04462770.
- ClinicalTrials.gov. Identifier NCT04442295, An Open-Label Study to Investigate the Safety of Single Ascending Doses in Children and Adolescents With Dravet Syndrome. [ cited 2021 Jan 29]. Available at: https://clinicaltrials.gov/ct2/show/record/NCT04442295.
- ClinicalTrials.gov. Identifier NCT03406702, A Phase 2 Study of CX-8998 in Adolescents and Adults With Idiopathic Generalized Epilepsy With Absence Seizures. [cited 2021 Jan 29]. Available at: https://clinicaltrials.gov/ct2/show/NCT03406702.
- ClinicalTrials.gov. Identifier NCT03731715, Carisbamate in Adult & Pediatric Subjects With Lennox-Gastaut Syndrome. [ cited 2021 Jan 31]. Available at: https://clinicaltrials.gov/ct2/show/NCT03731715.
- Bialer M, Johannessen SI, Koepp MJ, et al. Progress report on new antiepileptic drugs: a summary of the Fifteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XV). I. Drugs in preclinical and early clinical development. Epilepsia. 61(11): 2340–2364. 2020.
- ClinicalTrials.gov. Identifier NCT03467100, Safety, Tolerability, and Pharmacokinetics of Single and Multiple Ascending Oral Doses of XEN901. [ cited 2021 Mar 26]. Available at: https://clinicaltrials.gov/ct2/show/NCT03467100.
- McCoy B, Wang L, Zak M, et al. A prospective open-label trial of a CBD THCcannabis oil in dravet syndrome. Ann Clin Transl Neurol. 5(9): 1077–1088. 2018.
- Catalyst Pharmaceutical Partners, Inc. Catalyst Pharmaceutical Partners Granted Orphan Medicinal Product Designation in European Union for CPP-115 for the Treatment of West Syndrome (Infantile Spasms) : catalyst Pharmaceutical. [ cited 2021 Mar 26]. Available at: https://ir.catalystpharma.com/news-releases/news-release-details/catalyst-pharmaceutical-partners-granted-orphan-medicinal/.
- ClinicalTrials.gov. Identifier NCT01493596, A Safety, Tolerability and Pharmacokinetic Study of CPP-115. [cited 2021 Jan 31]. Available at: https://clinicaltrials.gov/ct2/show/record/NCT01493596.
- Hsiao J, Yuan TY, Tsai MS, et al. Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome. EBioMedicine. 2016;9:257–277.
- Lenk GM, Jafar‐Nejad P, Hill SF, et al. Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome. Ann Neurol. 87(3): 339–346. 2020.
- Encoded Therapeutics. ETX101 for Dravet Syndrome. [ cited 2021 Jan 28]. Available at: https://encoded.com/etx101-for-dravet-syndrome/.
- Theilmann W, Gericke B, Schidlitzki A, et al. Novel brain permeant mTORC1/2 inhibitors are as efficacious as rapamycin or everolimus in mouse models of acquired partial epilepsy and tuberous sclerosis complex. Neuropharmacology. 2020;180:108297.
- Wang X, Cao L, Guan Y, et al. The role of adenosine A1 receptor agonist in adenosine augmentation therapy for patients with refractory epilepsy in Sturge–Weber syndrome: an in vitro electrophysiological study. Epilepsy Behav. 2020;106:107034.
- Bialer M, Johannessen SI, Koepp MJ, et al. Progress report on new antiepileptic drugs: a summary of the Fifteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XV). II. Drugs in more advanced clinical development. Epilepsia. 61(11): 2365–2385. 2020.
- Janković S, Lukić S. Antiepileptic potential of ganaxolone. Vojnosanit Pregl. 2017;74(5):467–475.
- Marinus Pharmaceuticals Receives Positive Response from FDA on Sufficiency of One Phase 3 Clinical Trial for Filing of New Drug Application (NDA) for the Use of Ganaxolone in CDKL5 Deficiency Disorder (CDD). [ cited 2021 Jan 28]. Available at: https://www.businesswire.com/news/home/20210113005145/en/Marinus-Pharmaceuticals-Receives-Positive-Response-from-FDA-on-Sufficiency-of-One-Phase-3-Clinical-Trial-for-Filing-of-New-Drug-Application-NDA-for-the-Use-of-Ganaxolone-in-CDKL5-Deficiency-Disorder-CDD.
- Ganaxolone Achieves Primary Endpoint in Phase 3 Trial for CDKL5 Deficiency Disorder (CDD), a Rare Form of Genetic Epilepsy. [cited 2021 Jan 28]. Available at: https://www.businesswire.com/news/home/20200914005828/en/Ganaxolone-Achieves-Primary-Endpoint-in-Phase-3-Trial-for-CDKL5-Deficiency-Disorder-CDD-a-Rare-Form-of-Genetic-Epilepsy.
- Bialer M, Johannessen SI, Koepp MJ, et al. Progress report on new antiepileptic drugs: a summary of the Fourteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIV). II. Drugs in more advanced clinical development. Epilepsia. 2018;59(10):1842–1866.
- Lappalainen J, Chez M, Sullivan J, et al. A multicenter, open-label trial of ganaxolone in children with PCDH19 epilepsy (P5.236). Neurology. 2017;88:236.
- Rogawski M, Masuoka L, Specchio N, et al. Ganaxolone, an Investigational Neurosteroid Treatment for Children with CDKL5 Deficiency Disorder: results from a Phase 2 Trial. Abstracts of 20th Annual ASENT Meeting. Neurotherapeutics. 2018;15:819–835.
- Chez M. 55. Ganaxolone Therapy Improves Interictal EEG and Seizure Control in Lennox Gastaut Syndrome in Patients with PCDH19 and CDLK5. 45th Annual Meeting of the Child Neurology Society. Ann Neurol. 2016;80:S326.
- Devinsky D, Segal E, Chez M, et al.Open-label trial of ganaxolone in children with Lennox-Gastaut syndrome. American Epilepsy Society (Abstract 3.427).Am Epilepsy Soc.cited 2021 Jan 25 Available at.https://www.aesnet.org/meetings_events/annual_meeting_abstracts/view/392831
- Kaufmann WE, Sprouse J, Rebowe N, et al. ANAVEX®2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome. Pharmacol Biochem Behav. 2019;187:172796.
- Najjar A, Najjar A, Karaman R. Newly Developed Prodrugs and Prodrugs in Development; an Insight of the Recent Years. Molecules. 2020;25(4):884.
- Anavex Life Sciences Corp. Anavex Life Sciences Announces ANAVEX®2-73 (Blarcamesine) Meets Primary and Secondary Endpoints in Placebo-Controlled U.S. Phase 2 Clinical Trial for the Treatment of Adult Patients with Rett Syndrome. ANAVEX. [ cited 2021 Jan 21]. Available at: https://www.anavex.com/anavex-life-sciences-announces-anavex2-73-blarcamesine-meets-primary-and-secondary-endpoints-in-placebo-controlled-u-s-phase-2-clinical-trial-for-the-treatment-of-adult-patients-with-rett-syn/.
- Ovid Therapeutics Inc. Ovid Therapeutics Announces Phase 3 Neptune Clinical Trial of OV101 for the Treatment of Angelman Syndrome Did Not Meet Primary Endpoint. GlobeNewswire News Room. [cited 2021 Jan 21]. Available at: http://www.globenewswire.com/news-release/2020/12/01/2137913/0/en/Ovid-Therapeutics-Announces-Phase-3-NEPTUNE-Clinical-Trial-of-OV101-for-the-Treatment-of-Angelman-Syndrome-Did-Not-Meet-Primary-Endpoint.html.
- Higgins GA, Fletcher PJ, Shanahan WR. Lorcaserin: a review of its preclinical and clinical pharmacology and therapeutic potential. Pharmacol Ther. 2020;205:107417.
- Miziak B, Czuczwar S.Advances in the design and discovery of novel small molecule drugs for the treatment of Dravet Syndrome.Expert Opin Drug Discov.2020;https://doi.org/10.1080/17460441.2021.1857722
- U.S. Food and Drug Administration. FDA requests the withdrawal of the weight-loss drug Belviq, Belviq XR (lorcaserin) from the market. [ cited 2021 Jan 23]. Available at: https://www.fda.gov/drugs/drug-safety-and-availability/fda-requests-withdrawal-weight-loss-drug-belviq-belviq-xr-lorcaserin-market.
- Sharretts J, Galescu O, Gomatam S, et al. Cancer Risk Associated with Lorcaserin — the FDA’s Review of the CAMELLIA-TIMI 61 Trial. N Engl J Med. 2020;383(11):1000–1002.
- Mathai ML. Has the bloom gone out of lorcaserin following the CAMELLIA-TIMI61 trial? Expert Opin Pharmacother. 2021;22(3):261–264.
- Clinical Trials of Lorcaserin for Treatment of Dravet Syndrome Continue. Practical Neurology. [cited 2021 Jan 23]. Available at: https://practicalneurology.com/news/clinical-trials-of-lorcaserin-for-treatment-of-dravet-syndrome-continue.
- Tolete P, Knupp K, Karlovich M, et al. Lorcaserin therapy for severe epilepsy of childhood onset. Neurology. 91(18): 837–839. 2018.
- Griffin A, Hamling KR, Knupp K, et al. Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome. Brain. 2017;140:669–683.
- Ryan NJ. Ataluren: first Global Approval. Drugs. 2014;74(14):1709–1714.
- European Medicines Agency. Translarna®. [cited 2021 Jan 26]. Available at: https://www.ema.europa.eu/en/medicines/human/EPAR/translarna.
- Kerem KMW, De Boeck K, De Boeck K, et al. A randomized placebo-controlled trial of ataluren for the treatment of nonsense mutation cystic fibrosis. Lancet Respir Med. 2014;2(7):539–547.
- PTC Therapeutics Inc. PTC Therapeutics Announces Results from Pivotal Phase 3 Clinical Trial of Ataluren in Patients Living with Nonsense Mutation Cystic Fibrosis. [ cited 2021 Jan 26]. Available at: https://ir.ptcbio.com/news-releases/news-release-details/ptc-therapeutics-announces-results-pivotal-phase-3-clinical.
- Zainal Abidin N, Haq IJ, Gardner AI, et al. Ataluren in cystic fibrosis: development, clinical studies and where are we now? Expert Opin Pharmacother. 2017;18(13):1363–1371.
- Escayg A, Goldin AL. Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia. 2010;51(9):1650–1658.
- Huang X, Tian M, Hernandez CC, et al. The GABRG2 Nonsense Mutation, Q40X, Associated with Dravet Syndrome Activated NMD and Generated a Truncated Subunit That was Partially Rescued by aminoglycoside-Induced Stop Codon Read-through. Neurobiol Dis. 2012;48(1):115–123.
- Bahi-Buisson N, Bienvenu T. CDKL5-Related Disorders: from Clinical Description to Molecular Genetics. Mol Syndromol. 2012;2:137–152.
- Devinsky O, King L, Bluvstein J, et al. Ataluren for drug-resistant epilepsy in nonsense variant-mediated Dravet syndrome and CDKL5 deficiency disorder. Ann Clin Transl Neurol. 2021;8(3):639–644.
- van der Aart J, Yaqub M, Kooijman EJM, et al. Evaluation of the Novel PET Tracer [11C]HACH242 for Imaging the GluN2B NMDA Receptor in Non-Human Primates. Mol Imaging Biol. 2019;21(4):676–685.
- Mullier B, Wolff C, Sands ZA, et al. GRIN2B gain of function mutations are sensitive to radiprodil, a negative allosteric modulator of GluN2B-containing NMDA receptors. Neuropharmacology. 2017;123:322–331.
- ClinicalTrials.gov. Identifier NCT00838799, Study of the Safety and Efficacy of RGH-896 in Patients With Diabetic Peripheral Neuropathic Pain. [cited 2021 Jan 27]. Available at: https://clinicaltrials.gov/ct2/show/record/NCT00838799.
- Auvin S, Dozières‐Puyravel B, Avbersek A, et al. Radiprodil, a NR2B negative allosteric modulator, from bench to bedside in infantile spasm syndrome. Ann Clin Transl Neurol. 2020;7(3):343–352.
- Lemke JR, Hendrickx R, Geider K, et al. GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy. Ann Neurol. 2014;75(1):147–154.
- Sciberras D, Otoul C, Lurquin F, et al. A pharmacokinetic study of radiprodil oral suspension in healthy adults comparing conventional venous blood sampling with two microsampling techniques. Pharmacol Res Perspect. 2019;7(1):e00459.
- Steriade C, French J, Devinsky O. Epilepsy: key experimental therapeutics in early clinical development. Expert Opin Investig Drugs. 2020;29(4):373–383.
- Halford J, Sperling M, Arkilo D, et al. A Phase 1b/2a Study of Soticlestat (TAK-935/OV935) as Adjunctive Therapy in Adults With Developmental and/or Epileptic Encephalopathies (DEE) (4715). Neurology. 2020;94:4715.
- Halford J, Arkilo D, Asgharnejad M, et al. Initial Data From the Ongoing ENDYMION Open-label Extension Trial of Soticlestat (TAK-935/OV935) in Participants With Developmental and/or Epileptic Encephalopathies (DEE) (4492). Neurology. 2020;94:4492.
- ClinicalTrials.gov. Identifier NCT03166215, Study of TAK-935 as an Adjunctive Therapy in Participants With Developmental and/or Epileptic Encephalopathies. [ cited 2021 Mar 25]. Available at: https://clinicaltrials.gov/ct2/show/NCT03166215.
- Ovid Therapeutics Inc. Ovid Therapeutics Announces Initial Data with Soticlestat in CDKL5 Deficiency Disorder and Dup15q Syndrome. GlobeNewswire News Room. [ cited 2021 Jan 27]. Available at: http://www.globenewswire.com/news-release/2020/03/30/2008287/0/en/Ovid-Therapeutics-Announces-Initial-Data-with-Soticlestat-in-CDKL5-Deficiency-Disorder-and-Dup15q-Syndrome.html.
- Ovid Therapeutics Inc. Phase 2 ELEKTRA Study of Soticlestat (TAK-935/OV935) Meets Primary Endpoint Reducing Seizure Frequency in Children with Dravet Syndrome or Lennox-Gastaut Syndrome | Ovid Therapeutics Inc. [ cited 2021 Jan 29]. Available at: https://investors.ovidrx.com/news-releases/news-release-details/phase-2-elektra-study-soticlestat-tak-935ov935-meets-primary/.
- Baraban SC, Dinday MT, Hortopan GA. Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet Syndrome treatment. Nat Commun. 2013;4(1):2410.
- Griffin AL, Jaishankar P, Grandjean J-M, et al. Zebrafish studies identify serotonin receptors mediating antiepileptic activity in Dravet syndrome. Brain Commun. 2019;1(1):fcz008
- ClinicalTrials.gov. Identifier NCT04069689, Study of Safety and Pharmacokinetics of Oral Doses of EPX-100 in Healthy Subjects. [cited 2021 Jan 29]. Available at: https://clinicaltrials.gov/ct2/show/NCT04069689.
- Tan V. EPX-100. Dravet Syndrome News. [cited 2021 Jan 29]. Available at: https://dravetsyndromenews.com/epx-100/.
- Shin JJ, Saadabadi A. Trazodone. StatPearls. Treasure Island (FL): StatPearls Publishing; 2020.
- Kauppila LA, Amorim I, Bentes C, et al. Trazodone: a New Antiepileptic Drug for Dravet Syndrome? Int J Epilepsy. 2018;05(2):99–103
- Stoke Therapeutics. Stoke Therapeutics Announces Publication of Preclinical Data on STK-001 in the Journal Science Translational Medicine that Demonstrate Significant Improvements in Survival and Reductions in Seizure Frequency in a Dravet Syndrome Mouse Model. [cited 2021 Jan 28]. Available at: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-publication-preclinical-data-stk/.
- Han Z, Chen C, Christiansen A, et al. Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome. Sci Transl Med. 2020;12(558):eaaz6100.
- Ray F FDA Allows Higher STK-001 Dose for Dravet Children in MONARCH Trial. [cited 2021 Jan 29]. Available at: https://dravetsyndromenews.com/2020/12/08/fda-allows-higher-dose-stk-001-for-adolescents-children-with-dravet-syndrome-in-monarch-trial/.
- Papapetropoulos S, Lee MS, Boyer S, et al. A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial of CX-8998, a Selective Modulator of the T-Type Calcium Channel in Inadequately Treated Moderate to Severe Essential Tremor: t-CALM Study Design and Methodology for Efficacy Endpoint and Digital Biomarker Selection. Front Neurol. 2019;10:597.
- Lee M. Papapetropoulos S. CX-8998, a potent, selective T-type calcium channel antagonist dose-dependently suppresses seizures in the WAG/Rij genetic model of absence epilepsy. (P5.281). Neurology. 2018;90:281.
- Lee MS, Newbold EJ, Papapetropoulos S 289.21/J2 - CX-8998 and CX-5395, potent, selective T-type calcium channel antagonists suppress seizures in genetic models of epilepsy. 2018 Neuroscience Meeting. San Diego, CA: Society for Neuroscience. [cited 2021 Jan 29]. Available at: https://www.abstractsonline.com/pp8/#!/4649/presentation/25602.
- Lee M, Newbold E, and Papapetropoulos S. Therapeutic exposures of CX-8998, a potent, selective and state dependent Cav3 channel antagonist in development for Essential Tremor and Parkinson’s disease Tremor in Cav3 driven neurological models. Mov Disord. 2018. 33(s2);.
- Lee MS, Newbold EJ, and Papapetropoulos S.CX-8998, A Potent, Selective T-type Calcium Channel Antagonist, Fully Suppresses Seizures in the GAERS Genetic Model of Epilepsy. (Abst. 2.459).Am Epilepsy Soc. [cited2021 Jan 29] [cited.https://www.aesnet.org/meetings_events/annual_meeting_abstracts/view/553728
- ClinicalTrials.gov. History of Changes for Study NCT03406702 A Phase 2 Study of CX-8998 in Adolescents and Young Adults With Generalized Epileptic Syndromes With Absence Seizures. [cited 2021 Feb 27]. Available at: https://clinicaltrials.gov/ct2/history/NCT03406702?V_1=View#StudyPageTop.
- Papapetropoulos S, Lee M, Boyer S, et al. 2a Study of CX-8998, an Oral, Potent and Selective T-Type Calcium Modulator in Adolescents and Young Adults with Absence Epilepsy: rationale for population and dose selection (P5.282). Neurology. 2018;90:282.
- Whalley BJ, Stephens GJ, Constanti A. Investigation of the effects of the novel anticonvulsant compound carisbamate (RWJ-333369) on rat piriform cortical neurones in vitro. Br J Pharmacol. 2009;156(6):994–1008.
- Nehlig A, Rigoulot MA, Boehrer A. A new drug, RWJ 333369 displays potent antiepileptic properties in genetic models of absence and audiogenic epilepsy. Epilepsia. 2005;46:215.
- White HS, Srivastava A, Klein B, et al. The novel investigational neuromodulator RWJ 333369 displays a broad-spectrum anticonvulsant profile in rodent seizure and epilepsy models. Epilepsia. 2006;47:200.
- Franois J, Boehrer A, Nehlig A. Effects of Carisbamate (RWJ-333369) in Two Models of Genetically Determined Generalized Epilepsy, the GAERS and the Audiogenic Wistar AS. Epilepsia. 2008;49(3):393–399.
- Kulig K,M. Carisbamate, a new carbamate for the treatment of epilepsy. IDrugs. 2007;10:720–727.
- Bialer M, Johannessen SI, Koepp MJ, et al. Progress report on new antiepileptic drugs: a summary of the Fourteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIV). I. Drugs in preclinical and early clinical development. Epilepsia. 2018;59(10):1811–1841.
- Pan Y, Gerasimov MR, Kvist T, et al. (1 S, 3 S)-3-Amino-4-difluoromethylenyl-1-cyclopentanoic Acid (CPP-115), a Potent γ-Aminobutyric Acid Aminotransferase Inactivator for the Treatment of Cocaine Addiction. J Med Chem. 2012;55(1):357–366.
- Briggs SW, Mowrey W, Hall CB, et al. CPP-115, a vigabatrin analogue, decreases spasms in the multiple-hit rat model of infantile spasms. Epilepsia. 2014;55(1):94–102.
- Villa C, Lavitrano M, Combi R. Long Non-Coding RNAs and Related Molecular Pathways in the Pathogenesis of Epilepsy. Int J Mol Sci. 2019;20(19):4898.
- Strzelczyk A, Schubert-Bast S. Therapeutic advances in Dravet syndrome: a targeted literature review. Expert Rev Neurother. 2020;20(10):1065–1079.
- Young AN, Tanenhaus A, Belle A, et al. A GABA-selective AAV vector upregulates endogenous SCN1A expression and reverses multiple phenotypes in a mouse model of Dravet syndrome. 73rd American Epilepsy Society Annual Meeting. 2019 Dec. Abst. 3.1. [cited 2021 Jan 28]. Available at: https://www.aesnet.org/meetings_events/annual_meeting_abstracts/view/2421999.
- Wang X, Li T. Role of Adenosine Kinase Inhibitor in Adenosine Augmentation Therapy for Epilepsy: a Potential Novel Drug for Epilepsy. Curr Drug Targets. 2020;21(3):252–257.
- Pitkänen A, Henshall DC, Cross JH, et al. Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy. Epilepsia. 2019;60(7):1281–1292.
- Orsini A, Esposito M, Perna D, et al. Personalized medicine in epilepsy patients. J Transl Genet Genomics. 2018;2:16.
- Reif PS, Tsai M-H, Helbig I, et al. Precision medicine in genetic epilepsies: break of Dawn? Expert Rev Neurother. 2017;17(4):381–392.
- Božina N, IŠ S, Božina T, et al. Pharmacogenetics and the treatment of epilepsy: what do we know? Pharmacogenomics. 2019;20(15):1093–1101.
- Boon P, Ferrao Santos S, Jansen AC, et al. Recommendations for the treatment of epilepsy in adult and pediatric patients in Belgium: 2020 update. Acta Neurol Belg. 2021;121(1):241–257.
- Courage C, Oliver KL, Park EJ, et al. Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. Am J Hum Genet. 2021;108(4):722–738.
- Riva A, Guglielmo A, Balagura G, et al. Emerging treatments for progressive myoclonus epilepsies. Expert Rev Neurother. 2020;20(4):341–350.
- Balestrini S, Chiarello D, and Gogou M, et al. Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies. J Neurol Neurosurg Psychiatry. 2021 92(10) ;1044–1052.
- Ingusci S, Cattaneo S, Verlengia G, et al. A Matter of Genes: the Hurdles of Gene Therapy for Epilepsy. Epilepsy Curr. 2019;19(1):38–43.