Movement Disorders in Aicardi-Goutières Syndrome and Response to Immunomodulation.
Gonzalez Saez-Diez E, Ferrer Socorro M, Yang K, Battaglia N, Zaman Z, Bennett M, Vanderver A, Lee PY, Henderson LA, Andzelm MM, Ebrahimi-Fakhari D. Ann Clin Transl Neurol. 2026 Aug;13(8):1702-1710. doi: 10.1002/acn3.70407. Epub 2026 Apr 25.PMID: 42033272
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.
Smith L, Bonkowski E, Prentice A, Cohen S, Lusk L, Parthasarathy S, Burns B, Butler E, Chen Y, Dady K, Dugger S, Ing A, Lassiter R, Lewis-Smith D, Mulhern M, Nguyen JNH, Olival J, Sajan SA, Thompson CH, George AL Jr, Wagnon J, Yergert K, Magielski JH, McKee JL, Riggs E, Wiltrout K, Poduri A, Helbig I, Mefford HC. Genet Med. 2026 Aug;28(8):102615. doi: 10.1016/j.gim.2026.102615. Epub 2026 Jun 2.PMID: 42227234
Distributed control circuits across a brain-and-cord connectome.
Bates AS, Phelps JS, Kim M, Yang HH, Matsliah A, Ajabi Z, Perlman E, Delgado KM, Osman MAM, Salmon CK, Gager J, Silverman B, Renauld S, Salman F, Patel J, Collie MF, Fan J, Pacheco DA, Zhao Y, Zhang W, Serratosa Capdevila L, Roberts RJV, Munnelly EJ, Griggs N, Langley H, Moya-Llamas B, Zhang Z, Maloney RT, Yu SC, Sterling AR, Sorek M, Kruk K, Serafetinidis N, Dhawan S, Klemm F, Brooks P, Lesser E, Jones JM, Pierce-Lundgren SE, Lee SY, Luo Y, Cook AP, McKim TH, Giakoumas DS, Gorko B, Ellis-Joyce J, Zhang J, Kophs EC, Falt T, Negron-Morales AM, Burke A, Hebditch J, Willie KP, Willie R, Popovych S, Kemnitz N, Ih D, Lee K, Lu R, Halageri A, Bae JA, Jourdan B, Schwartzman G, Demarest DD, Behnke E, Bland D, Kristiansen A, Skelton J, Stocks T, Garner D, Hernandez A, Kumar S; BANC-FlyWire Consortium; Daly KC, Dorkenwald S, Collman F, Suver MP, Fenk LM, Pankratz MJ, Yao Z, Wang F, Huston SJ, Stürner T, Jefferis GSXE, Eichler K, Seeds AM, Hampel S, Agrawal S, Okubo TS, Zandawala M, Macrina T, Adjavon DY, Funke J, Tuthill JC, Azevedo A, Seung HS, de Bivort BL, Murthy M, Drugowitsch J, Wilson RI, Lee WA. Nature. 2026 Aug;656(8129):957-970. doi: 10.1038/s41586-026-10735-w. Epub 2026 Jun 8.PMID: 42259917
Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Ndiaye PS, Paul S, Zhao G, Ding C, Pulst SM, Schwarz T. Neurol Genet. 2026 Jun 9;12(4):e200400. doi: 10.1212/NXG.0000000000200400. eCollection 2026 Aug.PMID: 42290675
Ultrastructural and electrophysiological determination of the patency of monkey cone outer segment membranes.
Paniagua AE, Volland S, Bryman GS, Luna G, Chang AW, Do MTH, Fisher SK, Williams DS. J Neurosci. 2026 Aug 3:e0245262026. doi: 10.1523/JNEUROSCI.0245-26.2026. Online ahead of print.PMID: 42547447
Expanding the Motor Phenotype and Molecular Spectrum of NAA15-Related Disorder: Two Cases of Isolated Childhood-Onset Gait Dystonia.
Yang K, Montomoli M, Rong J, Tam A, Ferrer Socorro M, Miller C, Ebrahimi-Fakhari D. Mov Disord. 2026 Aug 4. doi: 10.1002/mds.70447. Online ahead of print.PMID: 42549786 No abstract available.
TMEM145 is a principal component of outer hair cell stereocilia.
Derstroff D, Flook M, Löhnes A, Kreye P, Newton S, Renigunta V, Hanemaaijer S, Aguilar C, Holt JR, Bowl MR, Oliver D, Reimann K. Neuron. 2026 Aug 5;114(15):2811-2825.e7. doi: 10.1016/j.neuron.2026.03.007. Epub 2026 Mar 31.PMID: 41923617
Development of a human iPSC and patient phenotyping resource for preclinical investigations of neurodevelopmental disorders.
Chen C, Afshar-Saber W, Iglesias I, Kim K, Lewis B, Srinivasan G, Chen C, Hirsh R, Guardado R, Polanco T, Swanson A, Norabuena E, Whye D, Jain A, Cai C, Sun L, Chopra M, Chen I, Iannello G, Rozumny B, Hanson E, Sahin M, Buttermore ED. Stem Cell Res. 2026 Aug 6;95:104073. doi: 10.1016/j.scr.2026.104073. Online ahead of print.PMID: 42612424
Safety, feasibility, and outcomes of deep brain stimulation in young children excluded from the FDA Humanitarian Device Exemption: analysis of the CHILD-DBS registry.
Jung S, Molot-Toker S, Dinger TF, Balachandar A, Taha B, Mithani K, Breitbart S, Huynh M, Kisteroff F, Sriharan S, Vogt LM, LeBlanc-Millar A, Ebrahimi-Fakhari D, Yang K, Ruppert-Gomez M, Stone SS, Northam WT, Gadgil N, Raskin JS, Weil AG, Hadjinicolaou A, Meijer IA, Fasano A, Gorodetsky C, Ibrahim GM. J Neurosurg Pediatr. 2026 Aug 7:1-12. doi: 10.3171/2026.2.PEDS25517. Online ahead of print.PMID: 42566800
Lysosomal dysfunction drives a transcriptional and epigenetic signature found in disease-associated microglia in neurodegenerative diseases.
Balak CD, Schlachetzki JCM, Lana AJ, West E, Hong C, DuGal J, Zhou Y, Li B, Spann NJ, Saisan P, Sarsani V, Kleemann KL, Zhang X, Pasillas MP, O’Brien S, Bokor JA, Gordts PLSM, Butovsky O, Stevens B, Kamme F, Glass CK. Immunity. 2026 Aug 11;59(8):2142-2163.e8. doi: 10.1016/j.immuni.2026.07.008. Epub 2026 Aug 3.PMID: 42546694
Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.
Killam BY, Knol MJ, Fradejas-Villar N, Chillon TS, Ruijter GJG, Bonte R, Abdulwahab F, Aldhalaan H, Alfaifi A, Alkuraya FS, Alsaif HS, Kiernan KA, Puppala AK, Baker L, Batten L, Chedrawi A, Dempsey JC, Doherty D, Faivre L, Gowda VK, Hashem MO, Heidari E, Garshasbi M, Inaba Y, Iwama K, Kinali M, Korinthenberg R, Lesca G, Maroofian R, Matsumoto N, Mazel B, Nelson SF, Neuteboom RF, Nicolescu CR, Olson H, Poduri A, Sasaki M, Schorling D, Signer RH, Srinivasan VM, Tamim A, Tavasoli AR, Tous E, Tyynismaa H, Visser WE, Vitobello A, Vlachou V, Wilke M, Adams HHH, Schomburg L, Schweizer U, Simonović M, Demirdas S. Genet Med. 2026 Aug 14:102684. doi: 10.1016/j.gim.2026.102684. Online ahead of print.PMID: 42603098
Targeting Gi/o-coupled GPCRs to inhibit nociceptors: Insights from the serotonin receptor Htr1b and triptans.
Peng J, Sanchez BT, Chirila AM, Zeng X, DeLisle MM, Qi L, Xiao JY, Lezgiyeva K, Low SA, Woolf CJ, Sharma N, Ginty DD. Cell Rep Med. 2026 Aug 18;7(8):102949. doi: 10.1016/j.xcrm.2026.102949. Epub 2026 Jul 30.PMID: 42532046
δ2-Protocadherins organize parallel indirect basal ganglia circuits.
Hoshina N, Boeckers JM, Johnson-Venkatesh EM, Hoshina M, Matsumoto K, Das A, Rally VR, Sant J, Terauchi A, Kinoshita S, Inoue T, Umemori H. Sci Adv. 2026 Aug 21;12(34):eaec8746. doi: 10.1126/sciadv.aec8746. Epub 2026 Aug 21.PMID: 42627895
Programming of deep brain stimulation of the centromedian nucleus of the thalamus for drug-resistant epilepsy: A meta-analysis and proposed programming framework.
AlQahtani MA, Stern-Zimmer M, Jain P, Sharma S, Fasano A, Rotenberg A, Ibrahim GM, Gorodetsky C. Epilepsia. 2026 Aug 22. doi: 10.1002/epi.70445. Online ahead of print.PMID: 42631552
De novo VPS16 missense variant causes infantile-onset dystonia with defective autophagic flux.
Gonzalez Saez-Diez E, Xue X, Tam A, Kim HM, Carty S, Rong J, Ferrer-Socorro M, Yang K, Ebrahimi-Fakhari D. JCI Insight. 2026 Jun 30;11(16):e207998. doi: 10.1172/jci.insight.207998. eCollection 2026 Aug 24.PMID: 42378062
Assessment of auditory and vestibular function and gene therapy in the Snell’s waltzer mouse model of human deafness and balance dysfunction.
Marton E, Hahn R, Bikovski L, Géléoc GSG, Holt JR, Mintz M, Avraham KB. Mamm Genome. 2026 Aug 28;37(1):99. doi: 10.1007/s00335-026-10263-y.PMID: 42665733
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