Myelin oligodendrocyte glycoprotein antibody-associated disease with aseptic meningitis-like presentation in a paediatric patient.

York A, Sacknovitz A, Tugal O, Gulko E, McGoldrick P, Wolf S, Overby P

C9orf72 deficiency impairs the autophagic response to aggregated TDP-25 and exacerbates TDP-25-mediated neurodegeneration in vivo.

Lin LT, Shenouda M, McGoldrick P, Lau A, Robertson J

Single-nucleus transcriptome atlas of orbitofrontal cortex in amyotrophic lateral sclerosis with a deep learning-based decoding of alternative polyadenylation mechanisms.

McKeever PM, Sababi AM, Sharma R, Xu Z, Xiao S, McGoldrick P, Ketela T, Sato C, Moreno D, Visanji N, Kovacs GG, Keith J, Zinman L, Rogaeva E, Goodarzi H, Bader GD, Robertson J

A Multicenter Retrospective Observational Cohort Study of Seizure Freedom before Lennox-Gastaut Syndrome (the "Gap"). Opportunities for Prevention.

Deering L, Nelson A, Yozawitz E, Wolf S, McGoldrick P, Wu A, Basma N, Grinspan Z

Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.

Ramos MA, Bonini KE, Scarimbolo L, Kelly NR, Insel B, Suckiel SA, Brown K, Di Biase M, Gallagher KM, Lopez J, AguiĂąiga KL, Marathe PN, Maria E, Odgis JA, Rodriguez JE, Rodriguez MA, Ruiz N, Sebastin M, Yelton NM, Cunningham-Rundles C, Gertner M, Laguerre I, McDonald TV, McGoldrick PE, Robinson M, Rubinstein A, Shulman LH, Williams T, Wolf SM, Yozawitz EG, Zinberg RE, Abul-Husn NS, Bauman LJ, Diaz GA, Ferket BS, Greally JM, Jobanputra V, Gelb BD, Kenny EE, Wasserstein MP, Horowitz CR

Bilateral pulvinar responsive neurostimulation for bilateral multifocal posteriorly dominant drug resistant epilepsy.

Wang R, Sacknovitz A, Vazquez S, Dominguez J, McGoldrick P, Wolf S, Sukul V, Muh C, Patra SE, Burdette DE

Resolution of Fenfluramine-associated pulmonary arterial hypertension in Lennox-Gastaut syndrome: A case report and literature review.

Strafella R, Wang R, Petchpradub M, Sacknovitz A, McGoldrick PE, Wolf SM

C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.

Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, McKeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE

Responsive neurostimulation in pediatric epilepsy: a systematic review and individual patient meta-analysis supplemented by a single institution case series in 105 aggregated patients.

Rosenberg A, Wang R, Petchpradub M, Beaudreault C, Sacknovitz A, Cozzi FM, Wolf SM, McGoldrick PE, Muh CR

C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A.

Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, Mckeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE

Overcoming Graft Rejection in Induced Pluripotent Stem Cell-Derived Inhibitory Interneurons for Drug-Resistant Epilepsy.

Beaudreault CP, Wang R, Muh CR, Rosenberg A, Funari A, McGoldrick PE, Wolf SM, Sacknovitz A, Chung S

Responsive neurostimulation of the frontal lobe for the detection and treatment of seizures in intractable epilepsy due to tuberous sclerosis complex: illustrative case.

Brabant PJ, Beaudreault CP, Wolf SM, McGoldrick PE, Ghatan S, Muh CR

Association of reductions in rescue medication requirements with vagus nerve stimulation: Results of long-term community collected data from a seizure diary app.

Beaudreault CP, Chiang S, Sacknovitz A, Moss R, Brabant P, Zuckerman D, Dorilio JR, Spirollari E, Naftchi AF, McGoldrick PE, Muh CR, Wang R, Nolan B, Clare K, Sukul VV, Wolf SM

Consensus panel recommendations for the optimization of EPIDIOLEXÂŽ treatment for seizures associated with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex.

Wechsler RT, Burdette DE, Gidal BE, Hyslop A, McGoldrick PE, Thiele EA, Valeriano J

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Epi25 Collaborative