References
- Miziak B, Chroscinska-Krawczyk M, Czuczwar SJ. Neurosteroids and Seizure Activity [Research Support, Non-U.S. Gov’t Systematic Review]. Front Endocrinol (Lausanne). 2020;11:541802. DOI:https://doi.org/10.3389/fendo.2020.541802.
- Begley CE, Durgin TL. The direct cost of epilepsy in the United States: a systematic review of estimates [Research Support, Non-U.S. Gov’t Review Systematic Review]. Epilepsia. 2015 Sep;56(9):1376–1387.
- Thurman DJ, Hesdorffer DC, French JA. Sudden unexpected death in epilepsy: assessing the public health burden. Epilepsia. 2014 Oct;55(10):1479–1485.
- Devinsky O, Spruill T, Thurman D, et al. Recognizing and preventing epilepsy-related mortality: a call for action [Review]. Neurology. 2016 Feb 23 86(8):779–786. https://doi.org/10.1212/WNL.0000000000002253
- Klein P, Tyrlikova I. No prevention or cure of epilepsy as yet [Review]. Neuropharmacology. 2020 May 15;168:107762. DOI:https://doi.org/10.1016/j.neuropharm.2019.107762.
- Perucca E, Brodie MJ, Kwan P, et al. 30 years of second-generation antiseizure medications: impact and future perspectives [Historical Article Review]. Lancet Neurol. 2020 Jun;19(6):544–556. DOI:https://doi.org/10.1016/S1474-4422(20)30035-1.
- Kotulska K, Kwiatkowski DJ, Curatolo P, et al. Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial [Randomized Controlled Trial Research Support, Non-U.S. Gov’t]. Ann Neurol. 2021 Feb;89(2):304–314.
- Wu YW, Sullivan J, McDaniel SS, et al. Incidence of Dravet Syndrome in a US Population [Research Support, N.I.H., Extramural]. Pediatrics. 2015 Nov;136(5):e1310–5. DOI:https://doi.org/10.1542/peds.2015-1807.
- Muir AM, King C, Schneider AL, et al. Double somatic mosaicism in a child with Dravet syndrome. Neurol Genet. 2019 Jun;5(3):e333. DOI:https://doi.org/10.1212/NXG.0000000000000333.
- Diseases NOfR. Lennox Gastaut Syndrome [cited 2021 Dec 23]. Available from: https://rarediseases.org/rare-diseases/lennox-gastaut-syndrome/
- Chu-Shore CJ, Major P, Camposano S, et al. The natural history of epilepsy in tuberous sclerosis complex [Comparative Study Research Support, Non-U.S. Gov’t]. Epilepsia. 2010 Jul;51(7):1236–1241. DOI:https://doi.org/10.1111/j.1528-1167.2009.02474.x.
- Curatolo P, Seri S, Verdecchia M, et al. Infantile spasms in tuberous sclerosis complex [Review]. Brain Dev. 2001 Nov;23(7):502–507. DOI:https://doi.org/10.1016/S0387-7604(01)00300-X.
- Diseases Nof R CDKL5 Deficiency Disorder 2021 [cited 2021 Dec 23]. Available from: https://rarediseases.org/rare-diseases/cdkl5/
- Demarest S. Developmental and Epileptic Encephalopathies: emerging Approaches to Treatment. Chicago IL: American Epilepsy Society Annual Meeting; 2021.
- Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature [Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t]. Ann Neurol. 2010 Dec;68(6):944–950. DOI:https://doi.org/10.1002/ana.22124.
- Banerjee A, Miller MT, Li K, et al. Towards abetter diagnosis and treatment of Rett syndrome: amodel synaptic disorder . Brain. 2019 Feb 1;142:239–248.
- Sandweiss AJ, Brandt VL, Zoghbi HY. Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies [Review]. . Lancet Neurol. 2020 Aug;19(8):689–698. DOI:https://doi.org/10.1016/S1474-4422(20)30217-9.
- Aicardi J, Gastaut H. Treatment of self-induced photosensitive epilepsy with fenfluramine [Case Reports Letter]. N Engl J Med. 1985 Nov 28;313(22):1419.
- Wang S, Chen G, Merlo Pich E, et al. Safety, tolerability, pharmacokinetics, pharmacodynamics, bioavailability and food effect of single doses of soticlestat in healthy subjects [Research Support, Non-U.S. Gov’t]. Br J Clin Pharmacol. 2021 Nov;87(11):4354–4365. DOI:https://doi.org/10.1111/bcp.14854.
- Koike T, Yoshikawa M, Ando HK, et al. Discovery of Soticlestat, a Potent and Selective Inhibitor for Cholesterol 24-Hydroxylase (CH24H) [ Research Support, N.I.H., Extramural]. J Med Chem. 2021 Aug 26;64(16):12228–12244. https://doi.org/10.1021/acs.jmedchem.1c00864
- Halford JJ, Sperling MR, Arkilo D, et al. A phase 1b/2a study of soticlestat as adjunctive therapy in participants with developmental and/or epileptic encephalopathies. Epilepsy Res. 2021 Aug;174:106646. https://doi.org/10.1016/j.eplepsyres.2021.106646
- Paul SM, Doherty JJ, Robichaud AJ, et al. The major brain cholesterol metabolite 24(S)-hydroxycholesterol is a potent allosteric modulator of N-methyl-D-aspartate receptors [Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t]. J Neurosci. 2013 Oct 30 33(44):17290–17300. https://doi.org/10.1523/JNEUROSCI.2619-13.2013
- Noguchi N, Saito Y, Urano Y. Diverse functions of 24(S)-hydroxycholesterol in the brain [Research Support, Non-U.S. Gov’t Review]. Biochem Biophys Res Commun. 2014 Apr 11; 446(3):692–696. https://doi.org/10.1016/j.bbrc.2014.02.010
- Nury T, Zarrouk A, Mackrill JJ, et al. Induction of oxiapoptophagy on 158N murine oligodendrocytes treated by 7-ketocholesterol-,7beta-hydroxycholesterol-, or 24(S)-hydroxycholesterol: protective effects of alpha-tocopherol and docosahexaenoic acid (DHA;C22:6 n-3) [Research Support,Non-U.S.Gov’t]. Steroids. 2015 Jul;99(Pt B):194–203. DOI:https://doi.org/10.1016/j.steroids.2015.02.003.
- Vo DK, Urano Y, Takabe W, et al. 24(S)-Hydroxycholesterol induces RIPK1-dependent but MLKL-independent cell death in the absence of caspase-8 [Research Support, Non-U.S. Gov’t]. Steroids. 2015 Jul;99(Pt B):230–237. DOI:https://doi.org/10.1016/j.steroids.2015.02.007.
- Fs NT, Hasegawa S, Watanabe S, et al. Inhibition of Cholesterol 24-hydroxylase is a Novel Pharmacological Strategy for Epilepsy Treatment (P5.264). 2018 [cited 2021 Nov 19]. Available from: https://n.neurology.org/content/90/15_Supplement/P5.264
- Nishi WS Inhibition of cholesterol 24-hydroxylase improves the survival of a mouse model of epileptic phenotype and modulates extracellular levels of glutamate 2021 [cited 2021 Nov 19]. Available from: https://www.abstractsonline.com/pp8/#!/4649/presentation/25583
- Hasegawa S, Nishi T, Watanabe S, et al. Takeda Pharmaceutical Co. Ltd. Cholesterol 24-hydroxylase inhibition is a novel pharmacological mechanism that exerts neuroprotective effects against glutamate excitotoxicity in rats 2021 [cited 2021 Nov 19]. Available from: https://www.abstractsonline.com/pp8/#!/4649/presentation/25584
- Therapeutics O Ovid Therapeutics Announces Phase 1b/2a Results of OV935/TAK-935 in Adults with Rare Epilepsies 2021 [cited 2021 Nov 18]. Available from: https://investors.ovidrx.com/news-releases/news-release-details/ovid-therapeutics-announces-phase-1b2a-results-ov935tak-935/
- Mantegazza M, Broccoli V. SCN1A/NaV 1.1 channelopathies: mechanisms in expression systems, animal models, and human iPSC models [Research Support, Non-U.S. Gov’t Review]. Epilepsia. 2019 Dec;60(3):S25–S38.
- 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 [Research Support, Non-U.S. Gov’t]. Sci Transl Med. 2020 Aug 26;12(558). . https://doi.org/10.1126/scitranslmed.aaz6100
- Wagnon JL. TANGO With SCN1A: can This Molecular Dance Defeat Dravet Syndrome? [Comment]. Epilepsy Curr. 2021 Jan-Feb;21(1):60–61.
- Scharner J, Aznarez I. Clinical Applications of Single-Stranded Oligonucleotides: current Landscape of Approved and In-Development Therapeutics [Research Support, Non-U.S. Gov’t Review]. Mol ther. 2021 Feb 3;29(2):540–554. DOI:https://doi.org/10.1016/j.ymthe.2020.12.022.
- Hill SF, Meisler MH. Antisense Oligonucleotide Therapy for Neurodevelopmental Disorders [Review]. Dev Neurosci. 2021;43(3–4):247–252.
- Stoke. Therapeutics Announces Positive Interim Safety, PK and CSF Exposure Data from the Phase 1/2a MONARCH Study of STK-001 in Children and Adolescents with Dravet Syndrome 2021. [cited 10 Jan 2022]. [updated September 21]. Available from: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-positive-interim-safety-pk-and-csf
- Therapeutics SP 2021. [cited 2021 Dec 1]. Available from: https://www.stoketherapeutics.com/pipeline/
- Thomsen WJ, Grottick AJ, Menzaghi F, et al. Lorcaserin, a novel selective human 5-hydroxytryptamine2C agonist: in vitro and in vivo pharmacological characterization. J Pharmacol Exp Ther. 2008 May;325(2):577–587. DOI:https://doi.org/10.1124/jpet.107.133348.
- Liu S, Bubar MJ, Lanfranco MF, et al. Serotonin2C receptor localization in GABA neurons of the rat medial prefrontal cortex: implications for understanding the neurobiology of addiction [Research Support, N.I.H., Extramural]. Neuroscience. [2007 Jun 8];146(4):1677–1688.
- Griffin A, Hamling KR, Knupp K, et al. Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome [Research Support, Non-U.S. Gov’t Research Support, N.I.H., Extramural]. Brain Journal of Neurology. 2017 Mar 1;140(3):669–683.
- Pejcic A, Jankovic SM, Desevic M, et al. Novel and emerging therapeutics for genetic epilepsies. Expert Rev Neurother. 2021 Nov;21(11):1283–1301. DOI:https://doi.org/10.1080/14737175.2021.1992275.
- Tolete P, Knupp K, Karlovich M, et al. Lorcaserin therapy for severe epilepsy of childhood onset: a case series. Neurology. 2018 Oct 30 91(18):837–839. https://doi.org/10.1212/WNL.0000000000006432
- ClinicalTrials GN NIH Clinical Trials.gov 2021. [cited 2022 Jan 10]. Available from: https://clinicaltrials.gov/
- Samanta D, Al Khalili Y. Electrical Status Epilepticus. In Sleep. [Updated 2022 Feb 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls; 2022 Jan.
- Boer M S-D. Guidelines for EEG in encephalopathy related to ESES/CSWS in children [Review]. Epilepsia. 2009 Aug;50(7):13–17.
- Singhal NS, Sullivan JE Continuous spike-wave during slow wave sleep and related conditions [Review]. ISRN neurology. 2014; 619079.
- De Negri M, Baglietto MG, Battaglia FM, et al. Treatment of electrical status epilepticus by short diazepam (DZP) cycles after DZP rectal bolus test [Clinical Trial]. Brain Dev. 1995 Sep-Oct;17(5):330–333. DOI:https://doi.org/10.1016/0387-7604(95)00076-N.
- Heron SE, Khosravani H, Varela D, et al. Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants [Research Support, Non-U.S. Gov’t]. Ann Neurol. 2007 Dec;62(6):560–568. DOI:https://doi.org/10.1002/ana.21169.
- Pipeline BN 2021 [cited 2021 Dec 28]. Available from: https://www.neurocrine.com/pipeline/pipeline-overview/
- Pharmaceuticals CT-WAVE 2022 [cited 2022 Jan 7]. Available from: https://twavestudy.com/
- Orsini A, Foiadelli T, Costagliola G, et al. The role of inflammatory mediators in epilepsy: focus on developmental and epileptic encephalopathies and therapeutic implications [Review]. Epilepsy Res. 2021 May;172:106588. https://doi.org/10.1016/j.eplepsyres.2021.106588
- 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 Oct;59(10):1811–1841. DOI:https://doi.org/10.1111/epi.14557.
- ClinicalTrials GN BIS-001-ER for the Treatment of Adult Focal Impaired Awareness Seizures (FIAS) 2021 [cited 2021 Dec 28]. Available from: https://clinicaltrials.gov/ct2/show/NCT03474770?term=NCT03474770&draw=2&rank=1
- Lavreysen H, Ahnaou A, Drinkenburg W, et al. Pharmacological and pharmacokinetic properties of JNJ-40411813, a positive allosteric modulator of the mGlu2 receptor. Pharmacol Res Perspect. 2015 Feb;3(1):e00096. DOI:https://doi.org/10.1002/prp2.96.
- Metcalf CS, Klein BD, Smith MD, et al. Efficacy of mGlu2 -positive allosteric modulators alone and in combination with levetiracetam in the mouse 6 Hz model of psychomotor seizures. Epilepsia. 2017 Mar;58(3):484–493. DOI:https://doi.org/10.1111/epi.13659.
- Trials GNC a study to investigate JNJ-40411813 in combination with levetiracetam in epilepsy. [cited 2021 Dec 25]. Available from: https://clinicaltrials.gov/ct2/show/NCT04836559?term=NCT04836559&cond=epilepsy&draw=2&rank=1
- Loscher W, Klein P. the pharmacology and clinical efficacy of antiseizure medications: from bromide salts to cenobamate and beyond [Review Research Support, Non-U.S. Gov’t]. CNS Drugs. 2021 Sep;35(9):935–963. DOI:https://doi.org/10.1007/s40263-021-00827-8.
- Newswire CP SK life science initiates phase 3 clinical trial of carisbamate for lennox-gastaut syndrome [cited 2022 Jan 6]. Available from: https://www.prnewswire.com/news-releases/sk-life-science-initiates-phase-3-clinical-trial-of-carisbamate-for-lennox-gastaut-syndrome-301455009.html
- Kim DY, Zhang FX, Nakanishi ST, et al. Carisbamate blockade of T-type voltage-gated calcium channels [Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t]. Epilepsia. 2017 Apr;58(4):617–626. DOI:https://doi.org/10.1111/epi.13710.
- Novak GP, Kelley M, Zannikos P, et al. Carisbamate (RWJ-333369) [Review]. Neurotherapeutics. 2007 Jan;4(1):106–109. DOI:https://doi.org/10.1016/j.nurt.2006.11.016.
- 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 [Congress]. Epilepsia. 2020 Nov;61(11):2340–2364. DOI:https://doi.org/10.1111/epi.16725.
- French JA. Phase 2b Efficacy and safety of XEN1101, a novel potassium channel modulator, in adults with focal epilepsy (X-TOLE). Chicago, IL, USA: American Epilepsy Society Meeting; 2021.
- Loscher W, Sills GJ, White HS. The ups and downs of alkyl-carbamates in epilepsy therapy: how does cenobamate differ? [Comparative Study Review]. Epilepsia. 2021 Mar;62(3):596–614.
- Zaccara G, Lattanzi S, Leo A, et al. Critical Appraisal of Cenobamate as Adjunctive Treatment of Focal Seizures in Adults [Review]. Neuropsychiatr Dis Treat. 2021;17:3447–3457.
- Lattanzi S, Riva A, Striano P Ganaxolone treatment for epilepsy patients: from pharmacology to place in therapy. Expert Review of Neurotherapeutics. 2021 Mar 29:1–16. .
- Krauss GL, Klein P, Brandt C, et al. Safety and efficacy of adjunctive cenobamate (YKP3089) in patients with uncontrolled focal seizures: a multicentre, double-blind, randomised, placebo-controlled, dose-response trial [Multicenter Study Randomized Controlled Trial Research Support, Non-U.S. Gov’t]. Lancet Neurol. 2020 Jan;19(1):38–48. DOI:https://doi.org/10.1016/S1474-4422(19)30399-0.
- Sperling MR, Klein P, Tsai J. Randomized, double-blind, placebo-controlled phase 2 study of ganaxolone as add-on therapy in adults with uncontrolled partial-onset seizures [Clinical Trial, Phase II Randomized Controlled Trial Research Support, Non-U.S. Gov’t]. Epilepsia. 2017 Apr;58(4):558–564. DOI:https://doi.org/10.1111/epi.13705.
- Biagini G, Panuccio G, Avoli M. Neurosteroids and epilepsy [Research Support, Non-U.S. Gov’t Review]. Curr Opin Neurol. 2010 Apr;23(2):170–176.
- Smith MS, Matthews R, Mukherji P. Infantile Spasms. Treasure Island: StatPearls Publishing; 2021.
- Stroke NIoNDa.
- Kerrigan JF, Shields WD, Nelson TY, et al. Ganaxolone for treating intractable infantile spasms: a multicenter, open-label, add-on trial [Clinical Trial Multicenter Study]. Epilepsy Res. 2000 Dec;42(2–3):133–139. DOI:https://doi.org/10.1016/S0920-1211(00)00170-4.
- Reddy DS, Rogawski MA. Neurosteroids as endogenous regulators of seizure susceptibility and use in the treatment of epilepsy. Epilepsia. 2010;51(Suppl 5):84.
- Iyer A, Appleton R. Improving Outcomes in Infantile Spasms: role of Pharmacotherapy [Review]. Paediatr Drugs. 2016 Oct;18(5):357–366.
- rarechromo.org. PCDH19–related epilepsy [cited 2021 Dec 21]. Available from: https://www.rarechromo.org/media/singlegeneinfo/Single%20Gene%20Disorder%20Guides/PCDH19-related%20epilepsy%20FTNW.pdf
- Operto FF, Mazza R, Pastorino GMG, et al. Epilepsy and genetic in Rett syndrome: a review. Brain Behav. 2019 May;9(5):e01250. DOI:https://doi.org/10.1002/brb3.1250.
- Steriade C, French J, Devinsky O. Epilepsy: key experimental therapeutics in early clinical development [Review]. Expert Opin Investig Drugs. 2020 Apr;29(4):373–383. DOI:https://doi.org/10.1080/13543784.2020.1743678.
- Sullivan J. Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-Clustering Epilepsy. ChicagoIL: American Epilepsy Society Annual Meeting; 2021.
- Pharmaceuticals M marinus announces successful clinical trial results and declares cdkl5 disorder its lead pediatric orphan epilepsy program for ganaxolone 2017 [cited 2021 Dec 21]. Available from: https://www.globenewswire.com/news-release/2017/09/11/1117414/0/en/Marinus-Announces-Successful-Clinical-Trial-Results-and-Declares-CDKL5-Disorder-Its-Lead-Pediatric-Orphan-Epilepsy-Program-for-Ganaxolone.html
- Wire B Ganaxolone achieves primary endpoint in phase 3 trial for cdkl5 deficiency disorder (cdd), a rare form of genetic epilepsy 2020 [cited 2021 March 14]. Available from: 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
- Pharmaceuticals M Marinus pharmaceuticals reports topline ganaxolone phase 2 open-label results in tuberous sclerosis complex and receives fda orphan drug designation 2021 [cited 2021 Dec 21]. Available from: https://ir.marinuspharma.com/news/news-details/2021/Marinus-Pharmaceuticals-Reports-Topline-Ganaxolone-Phase-2-Open-Label-Results-in-Tuberous-Sclerosis-Complex-and-Receives-FDA-Orphan-Drug-Designation/default.aspx
- Brophy GM, Bell R, Claassen J, et al. Guidelines for the evaluation and management of status epilepticus. Neurocrit Care. 2012;17(1):3–23.
- Al-Mufti F, Claassen J. Neurocritical care: status epilepticus review [Review]. Crit Care Clin. 2014 Oct;30(4):751–764.
- Singh A, Stredny CM, Loddenkemper T. Pharmacotherapy for pediatric convulsive status epilepticus [Research Support, Non-U.S. Gov’t Review]. CNS Drugs. 2020 Jan;34(1):47–63.
- Vaitekevicius H, Ramsay R, Christa B, et al. Intravenous ganaxolone for the treatment of refractory status epilepticus results from an open-label, dose-finding, phase 2 study. ChicagoIL: American Epilepsy Society Annual Meeting; 2021.
- Dezsi G, Sieg F, Thomas M, et al. Disease-modifying effects of neural regeneration peptide 2945 in the gaers model of absence epilepsy. Neurochem Res. 2017 Jul;42(7):2055–2064. DOI:https://doi.org/10.1007/s11064-017-2305-x.
- Sajadian A, Esteghamat S, Karimzadeh F, et al. Anticonvulsant effect of neural regeneration peptide 2945 on pentylenetetrazol-induced seizures in rats [Research Support, Non-U.S. Gov’t]. Neuropeptides. 2015 Feb;49:15–23.
- Curonz. Clinical Studies by Curonz 2021. [cited 2021 Dec 1]. Available from: http://www.curonz.com/clinical.html
- McKernan RM, Whiting PJ Which GABAA-receptor subtypes really occur in the brain? [ Review]. Trends in Neurosciences. 1996 Apr;19(4):139–143. https://doi.org/10.1016/s0166-2236(96)80023-3
- Owen RM, Blakemore D, Cao L, et al. Design and identification of a novel, functionally subtype selective gabaa positive allosteric modulator (PF-06372865). J Med Chem. 2019 Jun 27 62(12):5773–5796. https://doi.org/10.1021/acs.jmedchem.9b00322
- Duveau V, Buhl DL, Evrard A, et al. Pronounced antiepileptic activity of the subtype-selective GABAA -positive allosteric modulator PF-06372865 in the GAERS absence epilepsy model [Research Support, Non-U.S. Gov’t]. CNS Neurosci Ther. 2019 Feb;25(2):255–260. DOI:https://doi.org/10.1111/cns.13046.
- Gurrell R, Gorman D, Whitlock M, et al. Photosensitive epilepsy: robust clinical efficacy of a selective GABA potentiator [clinical trial, phase ii multicenter study randomized controlled trial research support, non-u.s. gov’t]. Neurology. 2019 [Apr 9];92(15):e1786–e. DOI:https://doi.org/10.1212/WNL.0000000000007271.
- Serralta A, Barcia JA, Ortiz P, et al. Effect of intracerebroventricular continuous infusion of valproic acid versus single i.p. and i.c.v. injections in the amygdala kindling epilepsy model [Comparative Study Research Support, Non-U.S. Gov’t]. Epilepsy Res. 2006 Jul;70(1):15–26. DOI:https://doi.org/10.1016/j.eplepsyres.2006.02.003.
- Cook M, Murphy M, Bullus K, et al. 2021. Long-Term Experience with Intracerebroventricular Sodium Valproate Administration. American Epilepsy Society Meeting. Chicago, IL. Dec 4.
- Cook M, Murphy M, Bulluss K, et al. Anti-seizure therapy with a long-term, implanted intra-cerebroventricular delivery system for drug-resistant epilepsy: a first-in-man study. EClinicalMedicine. 2020 May;22:100326.
- Bouw MR, Chung SS, Gidal B, et al. Clinical pharmacokinetic and pharmacodynamic profile of midazolam nasal spray [Review Research Support, Non-U.S. Gov’t]. Epilepsy Res. 2021 Mar;171:106567.
- Therapeutics E Engage therapeutics announces phase 2b states study of staccato® alprazolam for seizure cessation meets primary endpoint 2020 [cited 2021 Dec 22]. Available from: https://www.globenewswire.com/news-release/2020/03/12/1999155/0/en/Engage-Therapeutics-Announces-Phase-2b-StATES-Study-of-Staccato-Alprazolam-for-Seizure-Cessation-Meets-Primary-Endpoint.html#:~:text=%E2%80%9CWith%20statistically%20significant%20and%20clinically,within%20two%20hours%2C%E2%80%9D%20said%20Jaqueline
- Martin P, Reeder T, Sourbron J, et al. An emerging role for sigma-1 receptors in the treatment of developmental and epileptic encephalopathies [review]. Int J Mol Sci. 2021 Aug 5 22(16):8416. https://doi.org/10.3390/ijms22168416
- Hampel H, Williams C, Etcheto A, et al. A precision medicine framework using artificial intelligence for the identification and confirmation of genomic biomarkers of response to an Alzheimer’s disease therapy: analysis of the blarcamesine (ANAVEX2-73) Phase 2a clinical study. Alzheimers Dement. 2020;6(1):e12013.
- Kaufmann WE, Sprouse J, Rebowe N, et al. ANAVEX(R)2-73 (blarcamesine), a sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of rett syndrome [research support, non-u.s. gov’t]. Pharmacol Biochem Behav. 2019 Dec;187:172796.
- Boel M, Casaer P. Add-on therapy of fenfluramine in intractable self-induced epilepsy. Neuropediatrics. 1996 Aug;27(4):171–173.
- Ceulemans B, Boel M, Leyssens K, et al. Successful use of fenfluramine as an add-on treatment for Dravet syndrome. Epilepsia. 2012 Jul;53(7):1131–1139. DOI:https://doi.org/10.1111/j.1528-1167.2012.03495.x.
- 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 [clinical trial comparative study randomized controlled trial research support, non-U.S. Gov’t]. Lancet. 2019 Dec 21;394(10216):2243–2254. https://doi.org/10.1016/S0140-6736(19)32500-0.
- Lagae L, Schoonjans AS, Gammaitoni AR, et al. A pilot, open-label study of the effectiveness and tolerability of low-dose ZX008 (fenfluramine HCl) in Lennox-Gastaut syndrome [Clinical Trial, Phase II Research Support, Non-U.S. Gov’t]. Epilepsia. 2018 Oct;59(10):1881–1888. DOI:https://doi.org/10.1111/epi.14540.
- Knupp K fenfluramine demonstrates efficacy in lennox-gastaut syndrome in phase 3 results 2020. [cited 2021 Dec 25]. Available from: https://www.neurologylive.com/view/fenfluramine-demonstrates-efficacy-in-lennox-gastaut-syndrome-in-phase-3-results
- Geenen KR, Doshi SP, Patel S, et al. Fenfluramine for seizures associated with Sunflower syndrome [Research Support, Non-U.S. Gov’t]. Dev Med Child Neurol. 2021 Dec;63(12):1427–1432. DOI:https://doi.org/10.1111/dmcn.14965.
- Pong AW, Eksiogu YZ, Takeoka M. ARX mutations in females: an under-recognized cause of epilepsy and developmental delay. Progress in Epileptic Disorders. Biology of Siezure Susceptibility in Developing Brain. 2008;6:65–74.
- Pong AW, Geary BR, Engelstad KM, et al. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes [Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t]. Epilepsia. 2012 Sep;53(9):1503–1510. DOI:https://doi.org/10.1111/j.1528-1167.2012.03592.x.
- Pong AW, De Vivo DC. Glucose transporter type i deficiency syndrome. In: Medical D, editor. Inherited metabolic Epilepsies. New York: Demos Medical. 2013 . p. 179–188.
- Eksioglu YZ, Pong AW, Takeoka M. A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females [Case Reports Comparative Study]. Epilepsia. 2011 May;52(5):984–992.
- Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy [Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t Review]. Nat Rev Neurol. 2010 Aug;6(8):445–453. DOI:https://doi.org/10.1038/nrneurol.2010.92.
- Pong AW, Pal DK, Chung WK. Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist [Research Support, Non-U.S. Gov’t Review]. Pediatr Neurol. 2011 May;44(5):317–327. DOI:https://doi.org/10.1016/j.pediatrneurol.2011.01.017.
- Knupp K. What can LGS learn (or not) from IS trials? Chicago IL: American Epilepsy Society; 2021.
- Paciorkowski AR, Thio LL, Dobyns WB. Genetic and biologic classification of infantile spasms [Review]. Pediatr Neurol. 2011 Dec;45(6):355–367.
- Kessler S. How can we better understand the underlying disease mechanism and/or seizure mechanism to help LGS trials? Chicago IL: American Epilepsy Society; 2021.
- PrevEp P 2021 [cited Dec 25]. Available from: https://www.prevep.com/pipeline/