Potter SN, Petzold C, Garbarini K, Forsythe AN, Jalazo E, Gable J, Zentz S, Okoniewski KC, Alperin S, Berry-Kravis E, Bird LM, Carson RP, de Wit MY, Heimer G, Le Pichon JB, Lindsey W, Lowden A, Makowski C, Marsh E, Myers KA, Nangia S, Nespeca M, Roche-Martínez A, Schleifer P, Sell E, Thibert R, Walleigh D, Moore A, Wheeler A. Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research Database. Pediatr Neurol. 2026 Sep;182:36-45. PubMed PMID: 42398223
Ochenkowska K, Rampal B, Légaré A, Triassi V, Audet S, Brisson A, Bernas G, Liao M, da Silva Babinet A, Pilliod J, Gillaspie M, VanNoy GE, Pais L, O'Donnell-Luria A, Leclerc N, Walleigh D, Schmouth JF, Cappadocia L, Desrosiers P, De Koninck P, Tétreault M, Samarut É. Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy. medRxiv. 2026 Mar 3. PubMed PMID: 41822681
Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK. Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels. Orphanet J Rare Dis. 2022 Dec 5;17(1):423. PubMed PMID: 36471344
Joshi CN, Miller JS, Silveira LJ, Nelson JA, Walleigh DJ, Joshi SM, Patel AD. A Multicenter Study of Adherence to Best Practices and Application of Epilepsy Quality Metrics in a Pediatric Telemedicine Encounter. J Child Neurol. 2022 Aug;37(8-9):744-748. PubMed PMID: 35656770
The impact of glycine reduction therapies on brain glycine levels in nonketotic hyperglycemia.
Joshi CN, Chapman KE, Bear JJ, Wilson SB, Walleigh DJ, Scheuer ML. Semiautomated Spike Detection Software Persyst 13 Is Noninferior to Human Readers When Calculating the Spike-Wave Index in Electrical Status Epilepticus in Sleep. J Clin Neurophysiol. 2018 Sep;35(5):370-374. PubMed PMID: 29933261
Current Diagnosis & Treatment Pediatrics
Obudanersen, a UBE3A-ATS antisense oligonucleotide, for children and adults with Angelman syndrome: the HALOS phase 1-2a trial.