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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Among authors: spinelli e. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Spinelli E, Christensen KR, Bryant E, Schneider A, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney PW, Andrews PI, El Achkar CM, Berkovic S, Rodan LH; Undiagnosed Diseases Network (UDN); McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL. Spinelli E, et al. Ann Neurol. 2021 Aug;90(2):274-284. doi: 10.1002/ana.26147. Epub 2021 Jul 13. Ann Neurol. 2021. PMID: 34185323 Free PMC article.
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
Shaheen R, Mark P, Prevost CT, AlKindi A, Alhag A, Estwani F, Al-Sheddi T, Alobeid E, Alenazi MM, Ewida N, Ibrahim N, Hashem M, Abdulwahab F, Bryant EM, Spinelli E, Millichap J, Barnett SS, Kearney HM, Accogli A, Scala M, Capra V, Nigro V, Fu D, Alkuraya FS. Shaheen R, et al. Among authors: spinelli e. Hum Mutat. 2019 Nov;40(11):2108-2120. doi: 10.1002/humu.23870. Epub 2019 Jul 29. Hum Mutat. 2019. PMID: 31301155
Gut Microbiota, the Ketogenic Diet and Epilepsy.
Spinelli E, Blackford R. Spinelli E, et al. Pediatr Neurol Briefs. 2018 Sep 21;32:10. doi: 10.15844/pedneurbriefs-32-10. Pediatr Neurol Briefs. 2018. PMID: 30275670 Free PMC article.
Nasal Pain as an Aura to a Complex Partial Seizure.
Spinelli E, Alkutbi A, Sinclair DB, Goez H. Spinelli E, et al. Can J Neurol Sci. 2016 May;43(3):424-6. doi: 10.1017/cjn.2015.357. Epub 2016 Jan 22. Can J Neurol Sci. 2016. PMID: 26795558 No abstract available.
Burst suppression on EEG: Not always an ominous sign.
Spinelli E, Penney S, Carline S, Romanovsky A, Ahmed SN. Spinelli E, et al. Seizure. 2017 Oct;51:190-192. doi: 10.1016/j.seizure.2017.09.002. Epub 2017 Sep 5. Seizure. 2017. PMID: 28910738 Free article. No abstract available.
Clinical and neuroanatomical characterization of the semantic behavioral variant of frontotemporal dementia in a multicenter Italian cohort.
Ghirelli A, Spinelli EG, Canu E, Basaia S, Castelnovo V, Cecchetti G, Sibilla E, Domi T, Magnani G, Caso F, Caroppo P, Prioni S, Villa C, Rossi G, Tremolizzo L, Appollonio I, Verde F, Ticozzi N, Silani V, Filippi M, Agosta F. Ghirelli A, et al. Among authors: spinelli eg. J Neurol. 2024 Apr 10. doi: 10.1007/s00415-024-12338-9. Online ahead of print. J Neurol. 2024. PMID: 38597943
274 results