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WONOEP appraisal: Targeted therapy development for early onset epilepsies.
Casillas-Espinosa PM, Wong JC, Grabon W, Gonzalez-Ramos A, Mantegazza M, Yilmaz NC, Patel M, Staley K, Sankar R, O'Brien TJ, Akman Ö, Balagura G, Numis AL, Noebels JL, Baulac S, Auvin S, Henshall DC, Galanopoulou AS. Casillas-Espinosa PM, et al. Among authors: balagura g. Epilepsia. 2024 Nov 19. doi: 10.1111/epi.18187. Online ahead of print. Epilepsia. 2024. PMID: 39560633
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. Neurol Sci. 2024 Oct 11. doi: 10.1007/s10072-024-07783-3. Online ahead of print. Neurol Sci. 2024. PMID: 39392525
WONOEP appraisal: Genetic insights into early onset epilepsies.
Quatraccioni A, Cases-Cunillera S, Balagura G, Coleman M, Rossini L, Mills JD, Casillas-Espinosa PM, Moshé SL, Sankar R, Baulac S, Noebels JL, Auvin S, O'Brien TJ, Henshall DC, Akman Ö, Galanopoulou AS. Quatraccioni A, et al. Among authors: balagura g. Epilepsia. 2024 Nov;65(11):3138-3154. doi: 10.1111/epi.18124. Epub 2024 Sep 20. Epilepsia. 2024. PMID: 39302576 Review.
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.
Perinelli MG, Naboni C, Balagura G, Amadori E, Vari MS, Capra V, Lentoiou C, Foiadelli T, Sirchia F, Luparia A, Marseglia G, Ramenghi LA, Striano P. Perinelli MG, et al. Among authors: balagura g. Neurol Clin Pract. 2024 Jun;14(3):e200287. doi: 10.1212/CPJ.0000000000200287. Epub 2024 Apr 19. Neurol Clin Pract. 2024. PMID: 38660576 Free PMC article.
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Iacomino M, Houerbi N, Fortuna S, Howe J, Li S, Scorrano G, Riva A, Cheng KW, Steiman M, Peltekova I, Yusuf A, Baldassari S, Tamburro S, Scudieri P, Musante I, Di Ludovico A, Guerrisi S, Balagura G, Corsello A, Efthymiou S, Murphy D, Uva P, Verrotti A, Fiorillo C, Delvecchio M, Accogli A, Elsabbagh M, Houlden H, Scherer SW, Striano P, Zara F, Chou TF, Salpietro V. Iacomino M, et al. Among authors: balagura g. Front Mol Neurosci. 2024 Apr 8;17:1268013. doi: 10.3389/fnmol.2024.1268013. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38650658 Free PMC article.
42 results