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Posts classified under: STXBP1

10Oct

Quantitative EEG Spectral Features Differentiate Genetic Epilepsies and Predict Neurologic Outcomes.

Quantitative EEG Spectral Features Differentiate Genetic Epilepsies and Predict Neurologic Outcomes.
Galer PD, McKee JL, Ruggiero SM, Kaufman MC, McSalley I, Ganesan S, Ojemann WKS, Gonzalez AK, Cao Q, Litt B, Helbig I, Conrad EC.
medRxiv. 2024 Oct 10:2024.10.09.24315105. doi: 10.1101/2024.10.09.24315105. PMID: 39417111. Free PMC article.

18Jun

STXBP1: fast-forward to a brighter future – a patient organization perspective

STXBP1: fast-forward to a brighter future – a patient organization perspective.
Goss JR, Prosser BL, Helbig I, Son Rigby C.
Ther Adv Rare Dis. 2024 Jun 18;5:26330040241257221. doi: 10.1177/26330040241257221. PMID: 38898886. eCollection 2024 Jan-Dec.

11Mar

Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders

Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders.
Marotta N, Boland MJ, Prosser BL.
Probl Pediatr Adolesc Health Care. 2024 Mar 11:101576. doi: 10.1016/j.cppeds.2024.101576. PMID: 38472035. [Epub ahead of print]

28Jun

Early life seizures and epileptic spasms in STXBP1 -related disorders. Thalwitzer KM, Xian J, deCampo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I. medRxiv. 2023 Jun 28:2023.06.26.23291892. doi: 10.1101/2023.06.26.23291892. Preprint.PMID: 37425705

Early life seizures and epileptic spasms in STXBP1 -related disorders.
Thalwitzer KM, Xian J, deCampo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I.
Epilepsia. 2024 Mar;65(3):805-816. PMID: 38279907. doi: 10.1111/epi.17886. Epub 2024 Jan 27.

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