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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: goyal s. Epilepsia. 2020 May;61(5):995-1007. doi: 10.1111/epi.16508. Epub 2020 May 29. Epilepsia. 2020. PMID: 32469098
Bilateral radial nerve palsy in a newborn.
Lundy CT, Goyal S, Lee S, Hedderly T. Lundy CT, et al. Among authors: goyal s. Neurology. 2009 Feb 10;72(6):576. doi: 10.1212/01.wnl.0000342126.70570.33. Neurology. 2009. PMID: 19204272 No abstract available.
Paroxysmal episodes, "re-build up" phenomenon and moyamoya disease.
Dlamini N, Goyal S, Jarosz J, Hampton T, Siddiqui A, Hughes E. Dlamini N, et al. Among authors: goyal s. Epileptic Disord. 2009 Dec;11(4):324-8. doi: 10.1684/epd.2009.0276. Epub 2009 Nov 30. Epileptic Disord. 2009. PMID: 19945932 Free article.
Risk factors for reading disability in families with rolandic epilepsy.
Vega YH, Smith A, Cockerill H, Tang S, Agirre-Arrizubieta Z, Goyal S, Pina M, Akman CI, Jolleff N, McGinnity C, Gomez K, Gupta R, Hughes E, Jackman J, McCormick D, Oren C, Scott D, Taylor J, Trounce J, Clarke T, Kugler S, Mandelbaum DE, McGoldrick P, Wolf S, Strug LJ, Pal DK. Vega YH, et al. Among authors: goyal s. Epilepsy Behav. 2015 Dec;53:174-9. doi: 10.1016/j.yebeh.2015.10.016. Epub 2015 Nov 12. Epilepsy Behav. 2015. PMID: 26580214 Free PMC article.
Clinical spectrum of STX1B-related epileptic disorders.
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J. Wolking S, et al. Among authors: goyal s. Neurology. 2019 Mar 12;92(11):e1238-e1249. doi: 10.1212/WNL.0000000000007089. Epub 2019 Feb 8. Neurology. 2019. PMID: 30737342 Free PMC 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: goyal s. 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
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: goyal s. Clin Genet. 2021 Oct;100(4):412-429. doi: 10.1111/cge.14023. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34216016 Free article.
2,164 results