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Comment
. 2022 Jun 28;22(4):231-233.
doi: 10.1177/15357597221096017. eCollection 2022 Jul-Aug.

Time Is Brain: The Importance of an Accurate SCN1A Prediction Score in the Era of Precision Medicine

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Comment

Time Is Brain: The Importance of an Accurate SCN1A Prediction Score in the Era of Precision Medicine

Danielle M Andrade. Epilepsy Curr. .
No abstract available

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Comment on

  • Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
    Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D. Brunklaus A, et al. Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24. Neurology. 2022. PMID: 35074891 Free PMC article.

References

    1. Finkel RS, Chiriboga CA, Vajsar J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet. 2016;388(10063):3017-3026. - PubMed
    1. Marini C, Scheffer IE, Nabbout R, et al. The genetics of Dravet syndrome. Epilepsia. 2011;52:24-29. - PubMed
    1. Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+ 2. Nat Genet. 2000;24(4):343-345. - PubMed
    1. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 2001;68(6):1327-1332. - PMC - PubMed
    1. Cetica V, Chiari S, Mei D, et al. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. Neurology. 2017;88(11):1037-1044. - PMC - PubMed

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