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Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D, Amor DJ, Boggs K, Baker N, Barnett C, de Silva MG, Edwards S, Fahey MC, Marum JE, Snell P, Bozaoglu K, Pope K, Mohammad SS, Riney K, Sachdev R, Scheffer IE, Schenscher S, Silberstein J, Smith N, Tom M, Ware TL, Lockhart PJ, Leventer RJ. Kooshavar D, et al. Among authors: scheffer ie. Brain Commun. 2024 Feb 28;6(2):fcae056. doi: 10.1093/braincomms/fcae056. eCollection 2024. Brain Commun. 2024. PMID: 38444904 Free PMC article.
The clinical relevance of MOG antibody testing in cerebrospinal fluid.
Reynolds M, Tan I, Nguyen K, Merheb V, Lee FXZ, Trewin BP, Lerch M, Shah S, Wolfe N, Buzzard K, Lechner-Scott J, Fabis-Pedrini M, Fok A, John N, Kneebone C, Yiannikas C, Brown DA, Kermode AG, Reddel S, Dale RC, Brilot F, Ramanathan S; Australasian MOGAD Study Group. Reynolds M, et al. Ann Clin Transl Neurol. 2024 Sep;11(9):2514-2519. doi: 10.1002/acn3.52163. Epub 2024 Jul 28. Ann Clin Transl Neurol. 2024. PMID: 39073255 Free PMC article.
Oral corticosteroid dosage and taper duration at onset in myelin oligodendrocyte glycoprotein antibody-associated disease influences time to first relapse.
Trewin BP, Dale RC, Qiu J, Chu M, Jeyakumar N, Dela Cruz F, Andersen J, Siriratnam P, Ma KKM, Hardy TA, van der Walt A, Lechner-Scott J, Butzkueven H, Broadley SA, Barnett MH, Reddel SW, Brilot F, Kalincik T, Ramanathan S; Australasian MOGAD Study Group. Trewin BP, et al. J Neurol Neurosurg Psychiatry. 2024 Oct 16;95(11):1054-1063. doi: 10.1136/jnnp-2024-333463. J Neurol Neurosurg Psychiatry. 2024. PMID: 38744459 Free PMC article.
Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial.
Sullivan J, Lagae L, Cross JH, Devinsky O, Guerrini R, Knupp KG, Laux L, Nikanorova M, Polster T, Talwar D, Ceulemans B, Nabbout R, Farfel GM, Galer BS, Gammaitoni AR, Lock M, Agarwal A, Scheffer IE; FAiRE DS Study Group. Sullivan J, et al. Among authors: scheffer ie. Epilepsia. 2023 Oct;64(10):2653-2666. doi: 10.1111/epi.17737. Epub 2023 Aug 17. Epilepsia. 2023. PMID: 37543865
Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.
Morison LD, Whiteman IT, Vogel AP, Tilbrook L, Fahey MC, Braden R, Bredebusch J, Hildebrand MS, Scheffer IE, Morgan AT. Morison LD, et al. Among authors: scheffer ie. J Inherit Metab Dis. 2025 Jan;48(1):e12838. doi: 10.1002/jimd.12838. J Inherit Metab Dis. 2025. PMID: 39821609 Free PMC article.
Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy.
Nappi M, Alberini G, Berselli A, Roscioni A, Soldovieri MV, Servettini I, Barrese V, Weckhuysen S, Chiu TA, Scheffer IE, Benfenati F, Maragliano L, Miceli F, Taglialatela M. Nappi M, et al. Among authors: scheffer ie. Proc Natl Acad Sci U S A. 2024 Dec 3;121(49):e2412388121. doi: 10.1073/pnas.2412388121. Epub 2024 Nov 27. Proc Natl Acad Sci U S A. 2024. PMID: 39602259 Free PMC article.
Early mortality in STXBP1-related disorders.
Furia F, Rigby CS, Scheffer IE, Allen N, Baker K, Hengsbach C, Kegele J, Goss J, Gorman K, Mala MI, Nicita F, Allan T, Spalice A, Weber Y; European STXBP1 consortium (ESCO); STXBP1 foundation; Rubboli G, Møller RS, Gardella E. Furia F, et al. Among authors: scheffer ie. Neurol Sci. 2024 Oct 11. doi: 10.1007/s10072-024-07783-3. Online ahead of print. Neurol Sci. 2024. PMID: 39392525
644 results