Neurosciences Research

Imaging of Craniovertebral Junction Instability, Fixation, and Stenosis in Children. Little SB, Sarma A, Bajaj M, Dennison J, Brahma B, Pruthi S. Radiographics. 2025 March 13

The extreme lateral transodontoid approach for large tumors in children in the ventral craniocervical junction. Laxpati N, Ramaswamy U, Lin F, Whitehead WE, Weiner HL, Bauer DF, Aldave G. J Neurosurg Pediatr. 2024 Dec 20

Pediatric metastatic extracranial high-grade glioma: A case report and literature review. Ali N, Eaton BR, Fangusaro JR, Castellino RC, Velázquez Vega JE, Chern JJ, Schniederjan M, Patil P. Neurooncol Pract. 2024 Oct 3

Sonic hedgehog medulloblastomas are dependent on Netrin-1 for survival. Julie Talbot, Joanna Fombonne, Jacob Torrejon, Benjamin R. Babcock, Leon F. McSwain, Nicolas Rama, Ludovica Lospinoso Severini, Emma Bonerandi, Veronique Marsaud, Flavia Bernardi, Tarek Gharsalli, Catherine Guix, Benjamin Ducarouge, Verena Neururer, Irene Basili, Audrey L. Mercier, Hua Yu, Antoine Forget, Emilie Indersie, Sophie Leboucher, Judith Souphron, Konstantin Okonechnikov, Wanchen Wang, Daisuke Kawauchi, Brandon J. Wainwright, Didier Frappaz, Pascale Varlet, Christelle Dufour, Kevin Beccaria, Thomas Blauwblomme, Loredana Martignetti, Lucia Di Marcotullio, Stéphanie Puget, François Doz, Franck Bourdeaut, Julien Masliah-Planchon, Timothy R. Gershon, Patrick Mehlen & Olivier Ayrault. Nat Commun. 2025 Jun 3

Suppressing recurrence in Sonic Hedgehog subgroup medulloblastoma using the OLIG2 inhibitor CT-179. Li Y, Lim C, Dismuke T, Malawsky DS, Oasa S, Bruce ZC, Offenhäuser C, Baumgartner U, D'Souza RCJ, Edwards SL, French JD, Ock LSH, Nair S, Sivakumaran H, Harris L, Tikunov AP, Hwang D, Alicea Pauneto CDM, Maybury M, Hassall T, Wainwright B, Kesari S, Stein G, Piper M, Johns TG, Sokolsky-Papkov M, Terenius L, Vukojević V, McSwain LF, Gershon TR, Day BW. Nat Commun. 2025 Feb 4

Unraveling the complexity of the senescence-associated secretory phenotype in adamantinomatous craniopharyngioma using multimodal machine learning analysis. Prince EW, Apps JR, Jeang J, Chee K, Medlin S, Jackson EM, Dudley R, Limbrick D, Naftel R, Johnston J, Feldstein N, Prolo LM, Ginn K, Niazi T, Smith A, Kilburn L, Chern J, Leonard J, Lam S, Hersh DS, Gonzalez-Meljem JM, Amani V, Donson AM, Mitra SS, Bandopadhayay P, Martinez-Barbera JP, Hankinson TC. Neuro Oncol. 2024 Jun 3

Clinical and genomic factors differ in pediatric and adult pilocytic astrocytoma: a single-center experience with over 350 patients. Chandler KE, Grigorian JN, Pisharody VA, Chisango Z, Chow J, Mao S, Ma T, Jahangiri A, Chern JJ, Hoang K. J Neurooncol. 2025 Nov

Targeted therapy in pediatric central nervous system tumors: a review from the National Pediatric Cancer Foundation. Siegel BI, Patil P, Prakash A, Klawinski DM, Hwang EI. Front Oncol. 2025 Feb 28

Primary Diffuse Leptomeningeal Melanomatosis in a Child with Extracranial Metastasis: Case Report. Shahab SW, Patil P, Fangusaro JR, Patteson B, Goldman-Yassen A, Eaton BR, Boydston W, Schniederjan M, Aguilera D. Curr Oncol. 2024 Jan 20

Implementation of a Clinical Pathway for the Treatment of Chronic Subdural Hematoma of Infancy. Futch HS, Chandler K, Wheelus J, Reisner A, Boydston W, Wrubel DM, Brahma B, Sawvel MS, Lepard J, Laxpati NG, Chern JJ. Oper Neurosurg. 2025 Aug 25

Special Pediatric Considerations in the Management of Severe Traumatic Brain Injury and Spinal Cord Injury. Futch HS, Newman SH, Onyewuenyi AC, Mulugeta MG, Blackwell LS, Verma MS, Javed M, Reisner A. Neurosurg Clin N Am. 2025 April 28

Outcomes of medical and surgical management in infectious intracranial aneurysms: a multicenter cohort analysis. Alawieh AM, Dimisko L, Zohdy YM, Koo AB, Saad H, El Baba B, Newman S, Grossberg JA, Matouk C, Cawley CM, Pradilla G, Reisner A, Fox WC, Perez-Vega C, Burkhardt JK, Salem M, Jabbour P, El Naamani K, Schmidt RF, Gooch MR, Starke RM, Abdelsalam A, Lu VM, Levitt M, Chalhoub RM, Kobeissy F, Spiotta AM, Barrow D, Howard BM. J Neurointerv Surg. 2025 Jun 15

Inflammasome links traumatic brain injury, chronic traumatic encephalopathy, and Alzheimer's disease. Seplovich G, Bouchi Y, de Rivero Vaccari JP, Pareja JCM, Reisner A, Blackwell L, Mechref Y, Wang KK, Tyndall JA, Tharakan B, Kobeissy F. Neural Regen Res. 2025 Jun 1

Measuring Self-Efficacy for Concussion Recovery: Psychometric Characteristics of the Progressive Activities of Controlled Exertion-Self-Efficacy Scale. Gioia GA, Vaughan CC, Sady MD, Gerst E, Burns A, Zayat M. J Neurotrauma. 2024 Nov 19

Consensus-Based Development of a Global Registry for Traumatic Brain Injury: Establishment, Protocol, and Implementation. Joannides AJ, Korhonen TK, Clark D, Gnanakumar S, Venturini S, Mohan M, Bashford T, Baticulon R, Bhagavatula ID, Esene I, Fernández-Méndez R, Figaji A, Gupta D, Khan T, Laeke T, Martin M, Menon D, Paiva W, Park KB, Pattisapu JV, Rubiano AM, Sekhar V, Shabani HK, Sichizya K, Solla D, Tirsit A, Tripathi M, Turner C, Depreitere B, Iaccarino C, Lippa L, Reisner A, Rosseau G, Servadei F, Trivedi RA, Waran V, Kolias A, Hutchinson P. Neurosurgery. 2024 Feb 1

An international, prospective observational study on traumatic brain injury epidemiology study protocol: GEO-TBI: Incidence. Joannides A, Korhonen TK, Clark D, Gnanakumar S, Venturini S, Mohan M, Bashford T, Baticulon R, Bhagavatula ID, Esene I, Fernández-Méndez R, Figaji A, Gupta D, Khan T, Laeke T, Martin M, Menon D, Paiva W, Park KB, Pattisapu JV, Rubiano AM, Sekhar V, Shabani H, Sichizya K, Solla D, Tirsit A, Tripathi M, Turner C, Depreitere B, Iaccarino C, Lippa L, Reisner A, Rosseau G, Servadei F, Trivedi R, Waran V, Kolias A, Hutchinson P. NIHR Open Res. 2024 May 3

The utility of biomarkers in traumatic brain injuries in children: opportunities and challenges. Reisner A, Zohdy YM, Chern JJ, Blackwell LS, Lepard JR, Alawieh A, Verma MS, Kobeissy F, Mulugeta MG, Tyndall JA, Klein BJ, Fariyike OA, Mannix R, Munoz Pareja JC, Wang KK. J Neurosurg Pediatr. 2024 May 17

Longitudinal multi-omics reveals pathogenic TSC2 variants disrupt developmental trajectories of human cortical organoids derived from Tuberous Sclerosis Complex. Niu W, Yu S, Li X, Wang Z, Chen R, Michalski C, Jahangiri A, Zohdy Y, Chern JJ, Whitworth TJ, Wang J, Xu J, Zhou Y, Qin Z, Li B, Gambello MJ, Peng J, Wen Z. bioRxiv [Preprint]. 2024 Oct 11

Trends in pediatric firearm-related injuries and disparities in acute outcomes. Mulugeta MG, Bailey G, Parsons K, Gillespie S, Johnson LM, Doh KF, Reisner A, Blackwell LS. Front Public Health. 2024 Mar 19

Association between social determinants of health and pediatric traumatic brain injury outcomes. Parsons K, Mulugeta MG, Bailey G, Gillespie S, Johnson LM, Myers HE, Reisner A, Blackwell LS. Front Neurol. 2024 Mar 14

Prognostic Value of Plasma Biomarkers S100B and Osteopontin in Pediatric TBI: A Prospective Analysis Evaluating Acute and 6-Month Outcomes after Mild to Severe TBI. Blackwell LS, Wali B, Xiang Y, Alawieh A, Sayeed I, Reisner A. Biomedicines. 2023 Aug 1

Pediatric Traumatic Brain Injury: Impact on the Developing Brain. Blackwell LS, Grell R. Pediatr Neurol. 2023 Nov

Predictive power of phase 1 studies for the identification of seizure onset zone in phase 2 in a pediatric epilepsy cohort. Katlowitz K, Allam A, Laxpati N, Lee S, McGinnis JP, Katyayan A, Ali I, Houck KM, Nayak A, Sen S, Diaz-Medina G, Mohanty D, Clarke D, Coorg R, Seto ES, Riviello JJ, Anderson AE, Weiner HL, Curry DJ. Epilepsia. 2025 Aug 18

Seizure detection using the wristband accelerometer, gyroscope, and surface electromyogram signals based on in-hospital and out-of-hospital dataset. Guangming Wanga, Hao Yanb, Wen Lia, Duozheng Shenga, Liankun Renc, Qun Wang, Hua Zhang, Guojun Zhang, Tao Yub, Gang Wang. Seizure - European Journal of Epilepsy, Volume 127, 127 – 134. 2025 March 20

Hemispherotomy for drug-resistant epilepsy in bilateral Sturge-Weber syndrome: illustrative cases. Hidalgo ET, Grin EA, Dastagirzada Y, Laxpati N, Bluvstein J, Schneider JR, Miles D, Tzadok M, Riviello J, Weiner HL. J Neurosurg Case Lessons. 2025 Aug 4

Pseudoaneurysm Formation after Stereoencephalography for Epilepsy. Skelton HM, Laxpati NG, Lamanna JJ, Isbaine F, Barrow DL, Gross RE. Stereotact Funct Neurosurg. 2025 Feb 7

Neuromodulation Strategies in Lennox-Gastaut Syndrome: Practical Clinical Guidance from the Pediatric Epilepsy Research Consortium. Samanta D, Aungaroon G, Fine AL, Karakas C, Chiu MY, Jain P, Seinfeld S, Knowles JK, Mohamed IS, Stafstrom CE, Dixon-Salazar T, Patel AD, Bhalla S, Keator CG, Vidaurre J, Warren AEL, Shellhaas RA, Perry MS. Epilepsy Res. 2025 Jan 2

Effects of physical activity on cognition and psychosocial functioning in pediatric epilepsy: A systematic review. Alfonso D, Ailion A, Semaan N, Davalbhakta E, Bearden DJ. 2024 Jul 26

The involvement of the piriform cortex in non-lesional temporal lobe epilepsy: an uncommon component of the epileptogenic network. Pedersen NP, Raghu A, Shivamurthy VKN, Chern JJ, Gross RE, Willie JT, Dingledine RJ, Kheder A. Brain Commun. 2024 Jul 16

Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients. Deneubourg C, Salimi Dafsari H, Lowe S, Martinez-Cotrina A, Mazaud D, Park SH, Vergani V, Almacellas Barbanoj A, Maroofian R, Averdunk L, Ghayoor-Karimiani E, Jayawant S, Mignot C, Keren B, Peters R, Kamath A, Mattas L, Verma S, Silwal A, Distelmaier F, Houlden H, Lignani G, Antebi A, Jepson J, Jungbluth H, Fanto M. Autophagy. 2025 Feb

Language Mapping With rTMS in Healthy Pediatric Patients. Vedala K, Kadis DS, Vannest J, Sino S, Horn PS, Maue E, Williamson B, Mangano FT, Leach JL, Greiner HM. J Clin Neurophysiol. 2025 Jan 29

Responsive Neurostimulation of Thalamic and Nonthalamic Targets in Pediatric and Young Adult Patients With Intractable Epilepsy. Larrew T, Greiner HM, Arya R, Tenney JR, Aungaroon G, Clark DJ, Vedala K, Drake AW, Leach JL, Horn PS, Skoch J, Mangano FT. Neurosurgery. 2025 Jun 20

Electroencephalographic Findings Add Prognostic Value to Clinical Features Associated with Mortality on Venoarterial Extracorporeal Support. Baker A, Shah E, Ouyang A, Silver M, Tomko SR, Guilliams K, Said AS, Guerriero RM. Neurocrit Care. 2025 Oct

Antiseizure medications for Lennox-Gastaut Syndrome: Comprehensive review and proposed consensus treatment algorithm. Samanta D, Bhalla S, Bhatia S, Fine AL, Haridas B, Karakas C, Keator CG, Koh HY, Perry MS, Stafstrom CE, Vidaurre J, Warren AEL. Epilepsy Behav. 2025 Mar

An Unusual Case of Hypothalamic Hamartoma With Nongelastic Seizures and Posterior Cortex Connectivity. Al-Ramadhani R, Bhalla S, Bearden DJ, Ono K, Chern J, Kheder A. Pediatr Neurol. 2024 Sep

Reducing the percentage of surviving infants with acute symptomatic seizures discharged on anti-seizure medication. Nangle AM, He Z, Bhalla S, Bullock J, Carlson A, Dutt M, Hamrick S, Jones P, Piazza A, Vale A, Sewell EK. J Perinatol. 2025 Apr

Intracranial investigation of piriform cortex epilepsy during odor presentation. Bearden DJ, Selawski R, Chern JJ, Del Valle Martinez E, Bhalla S, Al-Ramadhani R, Ono KE, Pedersen NP, Zhang G, Drane DL, Kheder A. Neurocase. 2023 Feb-Apr;29

Caregiver and family functioning after pediatric disorder of consciousness: telephone-based outcome assessment. Riggall EA, Slomine BS, Suskauer SJ, Borda A, Lahey S, Ludwig NN. Brain Inj.2024 Jan 28

Establishing Minimal Clinically Important Differences for the Cognitive and Linguistic Scale (CALS) in Pediatric Neurorehabilitation. Svingos AM, Forsyth RJ, Alkhoury L, Slomine BS, Suskauer SJ, Watson WD, Blackwell LS, Shah SA. Arch Phys Med Rehabil. 2025 Jan 6

Three genes controlling streptomycin susceptibility inAgrobacterium fabrum. Howarth RE, Pattillo CM, Griffitts JS, Calvopina-Chavez DG. J Bacteriol. 2023 Sep 26

Scoping Review on the Diagnosis, Prognosis, and Treatment of Pediatric Disorders of Consciousness. Molteni E, Canas LDS, Briand MM, Estraneo A, Font CC, Formisano R, Fufaeva E, Gosseries O, Howarth RA, Lanteri P, Licandro GI, Magee WL, Veeramuthu V, Wilson P, Yamaki T, Slomine BS. Neurology. 2023 Aug 8

Social-environmental factors as mediators of IQ and achievement differences across race groups in adolescents with high risk congenital heart disease. Ilardi D, Alexander N, Xiang Y, Figueroa J, Blackwell L. Child Neuropsychol. 2023 Nov 29

Sleep Characteristics in Pediatric Anti-N-methyl-d-aspartate (NMDA) Receptor Encephalitis: A Retrospective Cohort Study. Gombolay G, Morris M, Loerinc L, Blackwell L, Howarth R. J Child Neurol. 2023 May 18

Evaluation, Treatment, and Outcomes of Viral and Autoimmune Encephalitis in Children. Vova JA, Howarth RA. Pediatr Clin North Am. 2023 Jun

The role of the Neuropsychologist across the stages of recovery from acquired brain injury: a summary from the pediatric rehabilitation Neuropsychology collaborative. Watson WD, Lahey S, Baum KT, Hamner T, Koterba CH, Alvarez G, Chan JB, Davis KC, DiVirgilio EK, Howarth RA, Jones K, Kramer M, Tlustos SJ, Zafiris CM, Slomine BS. Child Neuropsychol. 2023 Feb

Scoping Review on the Diagnosis, Prognosis, and Treatment of Pediatric Disorders of Consciousness. Molteni E, Canas LDS, Briand MM, Estraneo A, Font CC, Formisano R, Fufaeva E, Gosseries O, Howarth RA, Lanteri P, Licandro GI, Magee WL, Veeramuthu V, Wilson P, Yamaki T, Slomine BS; as the Special Interest Group on DoC of the International Brain Injury Association (IBIA-DoC SIG). Neurology. 2023 Aug 8

Four-Way Wada: SEEG-based mapping with electrical stimulation, high frequency activity, and phase amplitude coupling to complement traditional Wada and functional MRI prior to epilepsy surgery. Bearden DJ, Ehrenberg A, Selawski R, Ono KE, Drane DL, Pedersen NP, Cernokova I, Marcus DJ, Luongo-Zink C, Chern JJ, Oliver CB, Ganote J, Al-Ramadhani R, Bhalla S, Gedela S, Zhang G, Kheder A. Epilepsy Res. 2023 May

Social-environmental factors as mediators of IQ and achievement differences across race groups in adolescents with high risk congenital heart disease. Ilardi D, Alexander N, Xiang Y, Figueroa J, Blackwell L. Child Neuropsychol. 2023 Nov

Assessment of cognitive status in pediatric anti-NMDA receptor encephalitis during inpatient rehabilitation: A restrospective cohort. Howarth R, Blackwell L, Gombolay G. J Neuroimmunol. 2023 Mar 15

Orbicularis Oculi Stimulated Jitter Analysis in Children With Autoimmune Myasthenia Gravis. Natarajan V, Verma S. Muscle Nerve. 2025 Jan 30

Authors' response to letter to the editor: Electroconvulsive therapy in N-methyl-d-aspartate receptor encephalitis. Wright MA, Guasp M, Lachner C, Day GS, Gombolay G, Titulaer MJ, Clardy SL. J Neuroimmunol. 2024 Aug 15

Electroconvulsive therapy in N-methyl-d-aspartate receptor encephalitis: A retrospective cohort and scoping review of literature. Wright MA, Guasp M, Lachner C, Day GS, Gombolay G, Titulaer MJ, Clardy SL. J Neuroimmunol. 2024 Jul 15

Evaluation, Treatment, and Outcomes of Viral and Autoimmune Encephalitis in Children. Vova JA, Howarth RA. Pediatr Clin North Am. 2023 March 21

MRI Features and Their Association With Outcomes in Children with Anti-NMDA Receptor Encephalitis. Gombolay G, Brenton JN, Yang JH, Stredny CM, Kammeyer R, Otten CE, Vu N, Santoro JD, Robles-Lopez K, Christiana A, Steriade C, Morris M, Gorman M, Moodley M, Hardy D, Kornbluh AB, Kahn I, Sepeta LN, Yeshokumar A. Neurol Neuroimmunol Neuroinflamm. 2023 May 26

Influenza-Associated Acute Necrotizing Encephalopathy (IA-ANE) Working Group; Silverman A, Walsh R, Santoro JD, Thomas K, Ballinger E, Fisher KS, Thomas AX, Appavu B, Kruer MC, Neilson D, Knoll J, Sharp AN, Edelman HE, Otallah S, Morgan A, Grzezulkowska A, Nguyen J, Rao LM, Hecht SM, Catalano L, Daigle H, Kronfol C, Wharton J, Adams D, Kalawi AZ, Kung M, Arellano JL, Smith L, Segal D, Feja K, Broomall E, Jayakar A, Arnold SR, Retallack H, Press CA, Gombolay G, McLaughlin MH, Kannan V, Thakkar K, Rezwan T, Hulfish E, Eid D, Meylor J, Peng D, Hurtado R, Nickerson T, Mandell I, Carbonell AU, Kerner-Rossi M, Jayaraman D, Davis M, Olivero R, Shah N, Osborne CM, Zhang B, Cortina C, Randolph AG, Rao S, LaRocca T, Van Haren KP, Wilson-Murphy M. JAMA. 2025 Aug 26

Infection and Vaccination in Pediatric Demyelinating Diseases. Young M, Morris M, Gombolay G. Coronavirus Disease 2019. Pediatr Neurol. 2025 Jul

Meningitis as an Attack Phenotype of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease. Aboseif A, Kim NN, Bou G, Nathoo N, Guo Y, Pique J, Kerbrat A, Audoin B, Demortiere S, Bourre B, Ciron J, Chen JJ, Cacciaguerra L, Toledano M, Quek AML, Gombolay G, Marignier R, Hacohen Y, Flanagan EP. JAMA Neurol. 2025 Jun 16

Impact of a Nurse Care Coordinator on Time to Treatment in a Pediatric Multiple Sclerosis Clinic, a Retrospective Study. McLaughlin MH, Gombolay G. Neuropediatrics. 2025 Jul 24

Worldwide epidemiology of paediatric multiple sclerosis: data from the Multiple Sclerosis International Federation Atlas of MS, third edition. Gombolay G, Johnson L, King R, Hebert M, Banwell B, Chitnis T, Helme A. J Neurol Neurosurg Psychiatry. 2025 Jul 16

The diagnostic workup of children with the radiologically isolated syndrome differs by age and by sex. Makhani N, Lebrun-Frenay C, Siva A, Shabanova V, Wassmer E, Santoro JD, Narula S, Brenton JN, Mar S, Durand-Dubief F, Zephir H, Mathey G, Rojas JI, de Seze J, Tenembaum S, Stone RT, Casez O, Carra-Dallière C, Neuteboom RF, Ahsan N, Arroyo HA, Cabre P, Gombolay G, Inglese M, Louapre C, Margoni M, Palavra F, Pohl D, Reich DS, Ruet A, Thouvenot E, Timby N, Tintore M, Uygunoglu U, Vargas W, Venkateswaran S, Verhelst H, Wickstrom R, Azevedo CJ, Kantarci O, Shapiro ED, Okuda DT, Pelletier D; Observatoire Francophone de la Sclérose en Plaques (OFSEP), Société Francophone de la Sclérose en Plaques (SFSEP), Radiologically Isolated Syndrome Consortium (RISC), and the Pediatric Radiologically Isolated Syndrome Consortium (PARIS). J Neurol. 2024 Jul

Analysis of Gender Discrepancies in Leadership Roles and Recognition Awards in the Child Neurology Society. Martindale JM, Christy AL, Gombolay GY, Aravamuthan BR, Jansen L, Joshi S, Strober JB, Terrell M, Tilton AH, Pearl PL, Silver JK, Mink JW, Khakoo Y. Neurology. 2024 Sep 10

Isolated Psychiatric Symptoms in Children With Anti-N-Methyl-d Aspartate Receptor Encephalitis. Gombolay G, Brenton JN, Yang JH, Stredny CM, Kammeyer R, Fisher KS, Sandweiss AJ, Erickson TA, Kannan V, Otten C, Steriade C, Vu N, Santoro JD, Robles-Lopez K, Goodrich R, Otallah S, Arellano J, Christiana A, Morris M, Gorman MP, Kornbluh AB, Kahn I, Sepeta L, Jiang Y, Muscal E, Murray KO, Moodley M, Hardy D. Pediatr Neurol. 2024 Oct

Leptomeningeal Enhancement in Pediatric Anti-Myelin Oligodendrocyte Glycoprotein Antibody Disease, Multiple Sclerosis, and Neuromyelitis Optica Spectrum Disorder. Goldman-Yassen A, Lee A, Gombolay G. Pediatr Neurol. 2024 Apr

Identifying novel response markers for spinal muscular atrophy revealed by targeted proteomics following gene therapy. Pant DC, Verma S. Gene Ther. 2025 Jan 10

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy. De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, Töpf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Züchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J. Genet Med. 2025 June 27

Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing. Dominguez Gonzalez CA, Spinner NB, Ahrens-Nicklas RC, Young LR, Voss LA, Reichert SL, Gallo DJ, Cohen JS, Bonkowsky JL, Keller SR, Bennett ML, Pizzino AM, Swantkowski M, Arnold K, Fraser JL, Emerson FJ, Miettunen K, Fatemi A, Van Haren KP, Adang L, Waldman A, Emrick L, Eichler F, Vanderver A. Genet Med. 2025 July 27

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid MS, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Begtrup A, Elloumi H, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Oberg KC, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Mardi A, Hashemi-Gorji F, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Genet Med. 2025 Jan 27

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy. Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen CÉ, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Krägeloh-Mann I, Shults J, Vanderver A, Escolar ML. Mol Genet Metab. 2024 July 4

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice. Efthymiou S, Han W, Ilyas M, Li J, Yu Y, Scala M, Malintan NT, Ilyas M, Vavouraki N, Mankad K, Maroofian R, Rocca C, Salpietro V, Lakhani S, Mallack EJ, Palculict TB, Li H, Zhang G, Zafar F, Rana N, Takashima N, Matsunaga H, Manzoni C, Striano P, Lythgoe MF, Aruga J, Lu W, Houlden H. Front Mol Neurosci. 2024 Mar 1

Comprehensive genotype-phenotype analysis in POLR3-related disorders. Michell-Robinson MA, Perrier S, Gauthier S, Derksen A, Sabbagh Q, Girbig M, Misiaszek AD, Pizzino AM, Renaud DL, De Assis Pereira D, Okuda P, Karoleska LM, Keller S, Chong K, Gauquelin L, Brais B, Leube B, Grider T, Shy ME, Schüle R, Minnerop M, Bertini E, Nicita F, Tonduti D, Müller CW, Vanderver A, Wolf NI, Bernard G. HGG Adv. 2025 Oct 9

ReNeu Trial Investigators; ReNeu Study Investigators. ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma. Moertel CL, Hirbe AC, Shuhaiber HH, Bielamowicz K, Sidhu A, Viskochil D, Weber MD, Lokku A, Smith LM, Foreman NK, Hajjar FM, McNall-Knapp RY, Weintraub L, Antony R, Franson AT, Meade J, Schiff D, Walbert T, Ambady P, Bota DA, Campen CJ, Kaur G, Klesse LJ, Maraka S, Moots PL, Nevel K, Bornhorst M, Aguilar-Bonilla A, Chagnon S, Dalvi N, Gupta P, Khatib Z, Metrock LK, Nghiemphu PL, Roberts RD, Robison NJ, Sadighi Z, Stapleton S, Babovic-Vuksanovic D, Gershon TR; J Clin Oncol. 2025 Feb 20

Laparotomy-assisted, two-port fetoscopic myelomeningocele repair: infant to preschool outcomes. Sanz-Cortes M, Whitehead WE, Johnson RM, Aldave G, Castillo H, Desai NK, Donepudi R, Joyeux L, King A, Kralik SF, Lepard J, Mann DG, McClugage SG, Nassr AA, Naus C, Nguyen G, Castillo J, Ravindra VM, Sutton CD, Weiner HL, Belfort MA. J Neurosurg Pediatr. 2024 Nov 1

Lack of motor defects and ALS-like neuropathology in heterozygous Sptlc1 Exon 2 deletion mice. Pant DC, Lone MA, Parameswaran J, Ma F, Dutta P, Wang Z, Park J, Verma S, Hornemann T, Jiang J. bioRxiv [Preprint]. 2025 Feb 23

Unilateral Facial Lesion in an Infant With Known Vermian Hypoplasia. Marshall C, Shah E, Siegel L, Riley M, Shmuylovich L, Mian A, Smyser CD, Peglar Marsala L. Neoreviews. 2025 Mar 1

POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System. Le A, Thibault KA, Yazdani PA, Bertini E, Nicita F, Pohl D, Venkateswaran S, Keller S, Renaud D, Moron DG, Kauffman M, De Assis Pereira D, Vanderver A, Morsa M, Bernard G. Pediatr Neurol. 2025 May

Peripheral Neuropathy as an Early Marker in Newborn-Screened Krabbe Disease: The Value of Pre-Confirmatory Neurophysiological Testing. Gnanakumar A, Aljaberi R, Laney DA, Martin C, Keller SR, Parikh SH, Verma S. J Peripher Nerv Syst. 2025 Sep

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Cytotherapy. 2024 Jul

Measuring autism with the ADOS-2 using a bifactor model. Albert P, Kaldes G, Tully E, Romski M, Morris RD, Sevcik RA, Dilly L. Autism Res. 2024 Dec 17

Neural pathway activation in the subthalamic region depends on stimulation polarity. Borgheai SB, Opri E, Isbaine F, Cole ER, Jafari Deligani R, Laxpati NG, Risk BB, Willie JT, Gross RE, AuYong N, McIntyre CC, Miocinovic S. Brain Commun. 2025 Jan 21

Molecular diagnostic factors, prognostic implications, and long-term outcomes in pediatric pilocytic astrocytoma. Grigorian JN, Chandler KE, Pisharody VA, Chisango ZM, Chow J, Mao S, Ma T, Jahangiri A, Chern JJ, Hoang K. J Neurosurg Pediatr. 2025 Jul 4

Altered cortical excitability in tuberous sclerosis and the effect of mTOR inhibitors: An intracranial electrical stimulation study. Vedala K, Aungaroon G, Ritter D, Greiner HM, Tenney JR, Skoch J, Horn PS, Leach JL, Mangano FT, Krueger D, Arya R. Clin Neurophysiol. 2025 Feb 4

De novo variants in immune regulatory genes in Down syndrome regression disorder. Jafarpour S, Banerjee AK, Khoshnood MM, Vogel BN, Boyd NK, Nguyen L, Partridge R, Santoro SL, Gombolay GY, Fisher KS, de Asua DR, Del Ortega MC, Franklin C, Rafii MS, Santoro JD. J Neurol. 2024 June 22

Pediatric infectious aneurysms: individual patient pooled analysis on presentation, management and outcomes. Alawieh A, Zohdy YM, El Annan R, Assi JH, Dimisko L, Grossberg JA, Cawley CM, Chandler K, Chern JJ, Sawvel MS, Brahma B, Garzon-Muvdi T, Pradilla G, Barrow D, Reisner A, Howard BM. J Neurointerv Surg. 2024 Jan 3

Sex differences in etiologies, risk factors, and outcomes among young adult patients with acute ischemic stroke. Shah EG, Bhojwani M, Chang K, Dongarwar D, Gonzales NR, Jones E, Cohen AS, Sharrief AZ. J Stroke Cerebrovasc Dis. 2025 Aug

The role of occipital condyle and atlas anomalies on occipital cervical fusion outcomes in Chiari malformation type I with syringomyelia: a study from the Park-Reeves Syringomyelia Research Consortium. Yahanda AT, Koueik J, Ackerman LL, Adelson PD, Albert GW, Aldana PR, Alden TD, Anderson RCE, Bauer DF, Bethel-Anderson T, Bierbrauer K, Brockmeyer DL, Chern JJ, Couture DE, Daniels DJ, Dlouhy BJ, Durham SR, Ellenbogen RG, Eskandari R, Fuchs HE, Grant GA, Graupman PC, Greene S, Greenfield JP, Gross NL, Guillaume DJ, Hankinson TC, Heuer GG, Iantosca M, Iskandar BJ, Jackson EM, Jallo GI, Johnston JM, Kaufman BA, Keating RF, Khan NR, Krieger MD, Leonard JR, Maher CO, Mangano FT, Martin J, McComb JG, McEvoy SD, Meehan T, Menezes AH, Muhlbauer MS, O'Neill BR, Olavarria G, Ragheb J, Selden NR, Shah MN, Shannon CN, Shimony JS, Smyth MD, Stone SSD, Strahle JM, Tamber MS, Torner JC, Tuite GF, Tyler-Kabara EC, Wait SD, Wellons JC, Whitehead WE, Park TS, Limbrick DD, Ahmed R. J Neurosurg Pediatr. 2024 Apr 5

Indications for cerebral revascularization for moyamoya syndrome in pediatric sickle cell disease determined by Delphi methodology. Robert AP, Hanel RA, Adelson PD, Lang SS, Grabb P, Greene S, Johnston JM, Leonard J, Magge SN, Marupudi NI, Piatt J, De Oliveira Sillero R, Smith ER, Smith J, Strahle JM, Vadivelu S, Wellons JC, Wrubel D, Hatem A, Moody C, Han SH, Montaser A, Millican N, Pederson JM, Dain AS, Beslow LA, Aldana PR. J Neurosurg Pediatr. 2024 Jul 19

A cross-cultural study of visual attention in autism spectrum disorder. Nayar K, Kang X, Winston M, Wong P, Losh M. Child Neuropsychol. 2023 Apr

Childhood Academic Performance: A Potential Marker of Genetic Liability to Autism. Guilfoyle J, Winston M, Sideris J, Martin GE, Nayar K, Bush L, Wassink T, Losh M. J Autism Dev Disord. 2023 May