March 2026

Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases.

Resch D, Alecu JE, Yang K, Quiroz V, Schierbaum L, Bernardi K, Zaman Z, Agianda HAP, Rong J, Battaglia N, Carty S, Tam A, Kieslich M, Santorelli FM, González-Salazar C, França Junior MC, Ebrahimi-Fakhari D.
Mov Disord. 2026 Mar;41(3):615-624. doi: 10.1002/mds.70141. Epub 2025 Dec 2.PMID: 41328529

Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26).

Agianda HAP, Alecu JE, Tam A, Kim HM, Rong J, Battaglia N, Warren K, Mannix R, Setola N, Barghigiani M, Yoon G, Takiyama Y, Moon J, Bernardi K, Yang K, Schierbaum L, Santorelli FM, Ebrahimi-Fakhari D.
Mov Disord. 2026 Mar;41(3):785-791. doi: 10.1002/mds.70142. Epub 2025 Dec 9.PMID: 41365832

A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy.

Berry GT, Vos EN, Demirbas D, Brucker W, Gilmartin A, Lehtinen MK, Yang E, Prabhu SP, Chen J, Huang X, Qi W, Bennett MJ, Haynes RL, Rodan L, Poduri A, Pearl PL, Rotenberg A, He M, Rubio-Gozalbo ME.
Mol Genet Metab. 2026 Mar 3;148(2):109871. doi: 10.1016/j.ymgme.2026.109871. Online ahead of print.PMID: 41875761 

Disrupted O-GalNAc glycosylation as a mechanism and biomarker of SLC35A2-associated epilepsy.

Mealer RG, Anderson JJ, Smith SL, Masters BM, Barth SH, Huizar KDJ, Sran S, Yoon H, Ringland A, Muron SJ, Bowyer ME, D’Gama AM, Poduri A, Lidov HGW, Yang E, Furnari J, Canoll PD, Ostendorf AP, Koboldt DC, Pierson CR, Thomas DL, Philpot BD, Noel M, Cummings RD, Heinzen EL, Bedrosian TA.
bioRxiv [Preprint]. 2026 Mar 4:2026.03.02.708854. doi: 10.64898/2026.03.02.708854.PMID: 41867720 Preprint.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Brünger T, Krey I, Kim S, Klöckner C, Myers SJ, Johannesen KM, Stefanski A, Taylor G, Perez-Palma E, Macnee M, Schorge S, Dahl RS, Yuan H, Perszyk RE, Kim S, Bajaj S, Helbig I, Pan JQ, Farrant M, Wollmuth L, Wyllie DJA, Kurganov E, Baez D, Zuberi S, Boßelmann CM, Lerche H, Mantegazza M, Cestèle S, May P, Ivaniuk A, Meskis MA, Hood V, Schust L, Goodspeed K, Kang JQ, Freed A, Gati C, Montanucci L, Wuster A, Trinidad M, Froelich S, Deng AT, Serrano ÁA, Borovikov A, Sharkov A, Bouman A, Hajianpour MJ, Pal DK, Danvoye L, Lederer D, Balci TR, Hagebeuk EEO, Heidlebaugh A, Oetjens K, Hoffman TL, Striano P, Williams SD, van Engelen K, Howell KB, Khoury J, Benke TA, Strehlow V, Platzer K, Ramsey A, Manaster L, Malepati S, Fox P, Noebels J, Chung W, Poduri A, Stripe LL, Ruggiero SM, Cohen S, Smith L, Boesch S, Wilmarth O, Prentice AJ, Cha E, Budnik N, Hommersom MP, Kramer A, Vanoye CG, Zhang GQ, Nothnagel M, Palotie A, Daly MJ, George AL Jr, Zarate YA, Brunklaus A, Traynelis SF, Møller RS, Lemke JR, Lal D.
medRxiv [Preprint]. 2026 Mar 6:2026.03.05.26347086. doi: 10.64898/2026.03.05.26347086. PMID: 41822692 Preprint. 

An Open-Source Pipeline for Calcium Imaging and All-Optical Physiology in Human Stem Cell-Derived Neurons.

Afshar-Saber W, Gasparoli FM, Yang Z, Teaney NA, Hobson R, Lalani L, Srinivasan G, Whye D, Karmakar R, Buttermore ED, Winden KD, Chen C, Sahin M.
Adv Sci (Weinh). 2026 Mar 9:e15887. doi: 10.1002/advs.202515887. Online ahead of print.PMID: 41801223

Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT Study.

McPherson TO, Bebin EM, Farach LS, Wulsin AC, Davis P, Au KS, Sahin M, Wu JY, Taub KS, Rajaraman R, Randle S, McClintock WM, Koenig MK, Frost MD, Northrup H, Werner K, Nolan D, Wong M, Krefting J, Peri K, Cutter G, Krueger D, Peters JM, Porter BE; PREVeNT Study Group.
Pediatr Neurol. 2026 Mar 11;179:30-36. doi: 10.1016/j.pediatrneurol.2026.03.005. Online ahead of print.PMID: 41904855

Genomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndrome.

Yehia L, Li L, Idumah G, Frazier TW, Makarov V, Bose A, Parida L, Hardan A, Martinez-Agosto JA, Ritter DM, Sahin M, Eng C, Ni Y; Developmental Synaptopathies Consortium.
NPJ Genom Med. 2026 Mar 17. doi: 10.1038/s41525-026-00556-1. Online ahead of print.PMID: 41844650 

Interictal cardiac repolarization abnormalities improve after surgical seizure resolution in pediatric drug-resistant epilepsy.

Bozdag E, Makaram N, Sabino G, Bolton J, Grant EP, Rotenberg A, Tamilia E.
Epilepsia. 2026 Mar 18. doi: 10.1002/epi.70206. Online ahead of print.PMID: 41848583

The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.

Bernardi K, Zhou A, Yang K, Rong J, Quiroz V, Alecu JE, Agianda HAP, Schmidt HJD, Tam A, Carty S, Espasandin-Hueter N, Macaya A, Stamelou M, Pringsheim T, Means M, Lakhotia A, Blackburn J, Zea Vera A, Becker LF, Brüggemann N, Münchau A, Seliverstov Y, Vogt L, Gorodetsky C, Levine JM, Runco AD, Calame DG, Dai L, Ding C, Ebrahimi-Fakhari D.
Mov Disord. 2026 Mar 18. doi: 10.1002/mds.70227. Online ahead of print.PMID: 41850905

Climbing fibres recruit disinhibition to enhance Purkinje cell calcium signals.

Santos-Valencia F, Lackey EP, Norton A, Wardak A, Gaynor CS, Ediger S, Hemelt ME, Nguyen TM, Lee WA, Brunel N, Hull CA, Regehr WG.
Nature. 2026 Mar 18. doi: 10.1038/s41586-026-10220-4. Online ahead of print.PMID: 41851460

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Nguyen JNH, Lachgar-Ruiz M, Higginbotham EJ, Coleman M, Coleman J, Shao W, Scotchman E, Pritchard AJ, Bell KM, Chitty LS, Christodoulou J, De Fazio P, Deshwar AR, Eltze C, Griffiths AJS, Hassell J, Jain P, Kaliakatsos M, Liang NSY, Lombard P, Marshall CR, Marx C, McRae L, Mulhern S, Paternoster B, Perez Caballero A, Pipko N, Sidhu J, Smith L, Stark Z, Trost B, Wakeling E, White SM, Yoong M; Gene-STEPS Study Group, IPCHiP Executive Committee,; Chandler NJ, Cross JH, Scheffer IE, Chau V, Poduri A, Howell KB, Stephenson SEM, McTague A, Costain G, D’Gama AM.
Neurology. 2026 Mar 24;106(6):e214645. doi: 10.1212/WNL.0000000000214645. Epub 2026 Feb 13.PMID: 41687048 

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 Mar 31:S0896-6273(26)00171-6. doi: 10.1016/j.neuron.2026.03.007. Online ahead of print.PMID: 41923617

Human induced pluripotent stem cell-derived inner ear organoids reveal hair cell damage and plasticity after cisplatin and gentamicin exposure.

Lucassen AWA, van den Boogaard WMC, Fousert E, Zhang J, Koehler KR, de Groot JCMJ, van Benthem PPG, van der Valk WH, Locher H.
Dis Model Mech. 2026 Jun 1;19(6):dmm052511. doi: 10.1242/dmm.052511. Epub 2026 Mar 3.PMID: 41773293