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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK. Oates S, et al. Among authors: absoud m. Clin Genet. 2021 Oct;100(4):412-429. doi: 10.1111/cge.14023. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34216016 Free article.
SCN8A heterozygous variants are associated with anoxic-epileptic seizures.
Ranza E, Z'Graggen W, Lidgren M, Beghetti M, Guipponi M, Antonarakis SE, Absoud M, Goyal S, Pal DK, Korff CM. Ranza E, et al. Among authors: absoud m. Am J Med Genet A. 2020 May;182(5):1209-1216. doi: 10.1002/ajmg.a.61513. Epub 2020 Feb 10. Am J Med Genet A. 2020. PMID: 32040247
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, Parker A, Agrawal S, Hughes E, Lascelles K, Williams RE, Fallon P, Robinson R, Cross HJ, Hedderly T, Eltze C, Kerr T, Desurkar A, Hussain N, Kinali M, Bagnasco I, Vassallo G, Whitehouse W, Goyal S, Absoud M; EuroEPINOMICS-RES Consortium; Møller RS, Helbig I, Weber YG, Marini C, Guerrini R, Simpson MA, Pal DK. Tang S, et al. Among authors: absoud m. Epilepsia. 2020 May;61(5):995-1007. doi: 10.1111/epi.16508. Epub 2020 May 29. Epilepsia. 2020. PMID: 32469098
Autism spectrum disorder and kidney disease.
Clothier J, Absoud M. Clothier J, et al. Among authors: absoud m. Pediatr Nephrol. 2021 Oct;36(10):2987-2995. doi: 10.1007/s00467-020-04875-y. Epub 2020 Dec 19. Pediatr Nephrol. 2021. PMID: 33340339 Free PMC article. Review.
Utility and safety of plasma exchange in paediatric neuroimmune disorders.
Eyre M, Hacohen Y, Lamb K, Absoud M, Agrawal S, Gadian J, Gupta R, Kneen R, Milford DV, Philip S, Rose K, Smith M, Spinty S, Wassmer E, Lim M, Hemingway C. Eyre M, et al. Among authors: absoud m. Dev Med Child Neurol. 2019 May;61(5):540-546. doi: 10.1111/dmcn.14150. Epub 2019 Jan 18. Dev Med Child Neurol. 2019. PMID: 30659589 Free article.
73 results