[1] Cascino GD, Brinkmann BH. Advances in the surgical management of epilepsy:drug-resistant focal epilepsy in the adult patient[J]. Neurol Clin, 2021, 39:181-196.
[2] Ekman FR, Bjellvi J, Ljunggren S, Malmgren K, Nilsson D. Laser interstitial thermal therapy versus open surgery for mesial temporal lobe epilepsy:a systematic review and Meta-analysis[J]. World Neurosurg, 2024, 192:224-235.
[3] Jamiolkowski RM, Nguyen QA, Farrell JS, McGinn RJ, Hartmann DA, Nirschl JJ, Sanchez MI, Buch VP, Soltesz I. The fasciola cinereum of the hippocampal tail as an interventional target in epilepsy[J]. Nat Med, 2024, 30:1292-1299.
[4] Boff MO, Xavier FAC, Diz FM, Gonçalves JB, Ferreira LM, Zambeli J, Pazzin DB, Previato TTR, Erwig HS, Gonçalves JIB, Bruzzo FTK, Marinowic D, da Costa JC, Zanirati G. mTORopathies in epilepsy and neurodevelopmental disorders:the future of therapeutics and the role of gene editing[J]. Cells, 2025, 14:662.
[5] Zhang C, Liang D, Ercan-Sencicek AG, Bulut AS, Cortes J, Cheng IQ, Henegariu O, Nishimura S, Wang X, Peksen AB, Takeo Y, Caglar C, Lam TT, Koroglu MN, Narayanan A, Lopez-Giraldez F, Miyagishima DF, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay EZ, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan AO, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K. Dysregulation of mTOR signalling is a converging mechanism in lissencephaly[J].Nature, 2025, 638:172-181.
[6] Betancourt Moreira K, Collier MP, Leitner A, Li KH, Lachapel ILS, McCarthy F, Opoku-Nsiah KA, Morales-Polanco F, Barbosa N, Gestaut D, Samant RS, Roh SH, Frydman J. A hierarchical assembly pathway directs the unique subunit arrangement of TRiC/CCT[J]. Mol Cell, 2023, 83:3123-3139.
[7] Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, Lee TT, Flex E, Hentschel A, Innes AM, Zheng B, Julia Suh DS, Knopp C, Lausberg E, Krause J, Zhang X, Trapane P, Carroll R, McClatchey M, Fry AE, Wang L, Giesselmann S, Hoang H, Baldridge D, Silverman GA, Radio FC, Bertini E, Ciolfi A, Blood KA, de Sainte Agathe JM, Charles P, Bergant G, Čuturilo G, Peterlin B, Diderich K, Streff H, Robak L, Oegema R, van Binsbergen E, Herriges J, Saunders CJ, Maier A, Wolking S, Weber Y, Lochmüller H, Meyer S, Aleman A, Polavarapu K, Nicolas G, Goldenberg A, Guyant L, Pope K, Hehmeyer KN, Monaghan KG, Quade A, Smol T, Caumes R, Duerinckx S, Depondt C, Van Paesschen W, Rieubland C, Poloni C, Guipponi M, Arcioni S, Meuwissen M, Jansen AC, Rosenblum J, Haack TB, Bertrand M, Gerstner L, Magg J, Riess O, Schulz JB, Wagner N, Wiesmann M, Weis J, Eggermann T, Begemann M, Roos A, Häusler M, Schedl T, Tartaglia M, Bremer J, Pak SC, Frydman J, Elbracht M, Kurth I. Brain malformations and seizures by impaired chaperonin function of TRiC[J]. Science, 2024, 386:516-525.
[8] Medinas DB, Pereira N, Pereira R, da Silva GR, Santos VHS. Disturbances of endoplasmic reticulum proteostasis in neurodevelopmental disorders[J]. Biochem Soc Trans, 2025, 53:897-907.
[9] Rivolta I, Binda A, Masi A, DiFrancesco JC. Cardiac and neuronal HCN channelopathies[J]. Pflugers Arch, 2020, 472:931-951.
[10] Santoro B, Shah MM. Hyperpolarization-activated cyclic nucleotide-gated channels as drug targets for neurological disorders[J]. Annu Rev Pharmacol Toxicol, 2020, 60:109-131.
[11] Xie C, Liu F, He H, He F, Mao L, Wang X, Yin F, Peng J. Novel HCN1 mutations associated with epilepsy and impacts on neuronal excitability[J]. Front Mol Neurosci, 2022, 15:870182.
[12] Bleakley LE, Reid CA. HCN1 epilepsy:from genetics and mechanisms to precision therapies[J]. J Neurochem, 2024, 168:3891-3910.
[13] Tibbs GR, Uprety R, Warren JD, Beyer NP, Joyce RL, Ferrer MA, Mellado W, Wong VSC, Goldberg DC, Cohen MW, Costa CJ, Li Z, Zhang G, Dephoure NE, Barman DN, Sun D, Ingólfsson HI, Sauve AA, Willis DE, Goldstein PA. An anchor-tether 'hindered' HCN1 inhibitor is antihyperalgesic in a rat spared nerve injury neuropathic pain model[J]. Br J Anaesth, 2023, 131:745-763.
[14] Bleakley LE, McKenzie CE, Soh MS, Forster IC, Pinares-Garcia P, Sedo A, Kathirvel A, Churilov L, Jancovski N, Maljevic S, Berkovic SF, Scheffer IE, Petrou S, Santoro B, Reid CA. Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy[J]. Brain, 2021, 144:2060-2073.
[15] Lyashchenko AK, Redd KJ, Yang J, Tibbs GR. Propofol inhibits HCN1 pacemaker channels by selective association with the closed states of the membrane embedded channel core[J]. J Physiol, 2007, 583(Pt 1):37-56.
[16] Kim ED, Wu X, Lee S, Tibbs GR, Cunningham KP, Di Zanni E, Perez ME, Goldstein PA, Accardi A, Larsson HP, Nimigean CM. Propofol rescues voltage-dependent gating of HCN1 channel epilepsy mutants[J]. Nature, 2024, 632:451-459.
[17] Mastro TL, Preza A, Basu S, Chattarji S, Till SM, Kind PC, Kennedy MB. A sex difference in the response of the rodent postsynaptic density to synGAP haploinsufficiency[J]. Elife, 2020, 9:e52656.
[18] Komiyama NH, Watabe AM, Carlisle HJ, Porter K, Charlesworth P, Monti J, Strathdee DJ, O'Carroll CM, Martin SJ, Morris RG, O'Dell TJ, Grant SG. SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor[J]. J Neurosci, 2002, 22:9721-9732.
[19] Araki Y, Rajkovich KE, Gerber EE, Gamache TR, Johnson RC, Tran THN, Liu B, Zhu Q, Hong I, Kirkwood A, Huganir R. SynGAP regulates synaptic plasticity and cognition independently of its catalytic activity[J]. Science, 2024, 383:eadk1291.
[20] Gamache TR, Araki Y, Huganir RL. Twenty years of SynGAP research:from synapses to cognition[J]. J Neurosci, 2020, 40:1596-1605.
[21] Bershteyn M, Bröer S, Parekh M, Maury Y, Havlicek S, Kriks S, Fuentealba L, Lee S, Zhou R, Subramanyam G, Sezan M, Sevilla ES, Blankenberger W, Spatazza J, Zhou L, Nethercott H, Traver D, Hampel P, Kim H, Watson M, Salter N, Nesterova A, Au W, Kriegstein A, Alvarez-Buylla A, Rubenstein J, Banik G, Bulfone A, Priest C, Nicholas CR. Human pallial MGE-type GABAergic interneuron cell therapy for chronic focal epilepsy[J]. Cell Stem Cell, 2023, 30:1331-1350.
[22] Edwards KA, Zup SL. Serotonin pretreatment abolishes sex-specific NMDA-induced seizure behavior in developing rats[J].Neuroscience, 2021, 463:184-196.
[23] Kanner AM. Depression in epilepsy:a complex relation with unexpected consequences[J]. Curr Opin Neurol, 2008, 21:190-194.
[24] Silenieks LB, Carroll NK, Van Niekerk A, Van Niekerk E, Taylor C, Upton N, Higgins GA. Evaluation of selective 5-HT2C agonists in acute seizure models[J]. ACS Chem Neurosci, 2019, 10:3284-3295.
[25] Shmuely S, Sisodiya SM, Gunning WB, Sander JW, Thijs RD. Mortality in Dravet syndrome:a review[J]. Epilepsy Behav, 2016, 64(Pt A):69-74.
[26] Dravet C. The core Dravet syndrome phenotype[J]. Epilepsia, 2011, 52 Suppl 2:3-9.
[27] Ding J, Li X, Tian H, Wang L, Guo B, Wang Y, Li W, Wang F, Sun T. SCN1A mutation-beyond Dravet syndrome:a systematic review and narrative synthesis[J]. Front Neurol, 2021, 12:743726.
[28] Decker BM, Ellis CA, Schriver E, Fischbein K, Smith D, Moyer JT, Kulick-Soper CV, Mowery D, Litt B, Hill CE. Characterizing the treatment gap in the United States among adult patients with a new diagnosis of epilepsy[J]. Epilepsia, 2023, 64:1862-1872.
[29] Asadi-Pooya AA, Tomson T. A reappraisal of injuries and accidents in people with epilepsy[J]. Curr Opin Neurol, 2021, 34:182-187.
[30] Harden C, Tomson T, Gloss D, Buchhalter J, Cross JH, Donner E, French JA, Gil-Nagel A, Hesdorffer DC, Smithson WH, Spitz MC, Walczak TS, Sander JW, Ryvlin P. Practice guideline summary:sudden unexpected death in epilepsy incidence rates and risk factors. Report of the guideline development, dissemination, and implementation subcommittee of the American Academy of Neurology and the American Epilepsy Society[J]. Neurology, 2017, 88:1674-1680.
[31] Asadi-Pooya AA, Emami M, Ashjazadeh N, Nikseresht A, Shariat A, Petramfar P, Yousefipour G, Borhani-Haghighi A, Izadi S, Rahimi-Jaberi A. Reasons for uncontrolled seizures in adults; the impact of pseudointractability[J]. Seizure, 2013, 22:271-274.
[32] Donner E, Devinsky O, Friedman D. Wearable digital health technology for epilepsy[J]. N Engl J Med, 2024, 390:736-745.
[33] Beniczky S, Polster T, Kjaer TW, Hjalgrim H. Detection of generalized tonic-clonic seizures by a wireless wrist accelerometer:a prospective, multicenter study[J]. Epilepsia, 2013, 54:e58-e61.
[34] Arends J, Thijs RD, Gutter T, Ungureanu C, Cluitmans P, Van Dijk J, van Andel J, Tan F, de Weerd A, Vledder B, Hofstra W, Lazeron R, van Thiel G, Roes KCB, Leijten F; the Dutch Tele-Epilepsy Consortium. Multimodal nocturnal seizure detection in a residential care setting:a long-term prospective trial[J].Neurology, 2018, 91:e2010-e2019.
[35] Shum J, Friedman D. Commercially available seizure detection devices:a systematic review[J]. J Neurol Sci, 2021, 428:117611.
[36] Naganur V, Sivathamboo S, Chen Z, Kusmakar S, Antonic-Baker A, O'Brien TJ, Kwan P. Automated seizure detection with noninvasive wearable devices:a systematic review and meta-analysis[J]. Epilepsia, 2022, 63:1930-1941.
[37] Beniczky S, Wiebe S, Jeppesen J, Tatum WO, Brazdil M, Wang Y, Herman ST, Ryvlin P. Automated seizure detection using wearable devices:a clinical practice guideline of the International League Against Epilepsy and the International Federation of Clinical Neurophysiology[J]. Epilepsia, 2021, 62:632-646.
[38] Beniczky S, Arbune AA, Jeppesen J, Ryvlin P. Biomarkers of seizure severity derived from wearable devices[J]. Epilepsia, 2020, 61 Suppl 1:S61-S66.
[39] Picard RW, Migliorini M, Caborni C, Onorati F, Regalia G, Friedman D, Devinsky O. Wrist sensor reveals sympathetic hyperactivity and hypoventilation before probable SUDEP[J].Neurology, 2017, 89:633-635.
[40] Bennett SD, Cross JH, Chowdhury K, Ford T, Heyman I, Coughtrey AE, Dalrymple E, Byford S, Chorpita B, Fonagy P, Moss-Morris R, Reilly C, Smith JA, Stephenson T, Varadkar S, Blackstone J, Quartly H, Hughes T, Lewins A, Moore E, Walji F, Welch A, Whelan E, Zacharia A, D'Oelsnitz A, Shah M, Xu L, Vezyroglou A, Mitchell K, Nizza IE, Ganguli P, Shafran R. Clinical effectiveness of the psychological therapy Mental Health Intervention for Children with Epilepsy in addition to usual care compared with assessment-enhanced usual care alone:a multicentre, randomised controlled clinical trial in the UK[J]. Lancet, 2024, 403:1254-1266.
[41] Khambhati AN, Chang EF, Baud MO, Rao VR. Hippocampal network activity forecasts epileptic seizures[J]. Nat Med, 2024, 30:2787-2790. |