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Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

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9. Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.pdf (833.41 KB)

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2022

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Article

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Artículos Medicina y Ciencias de la Salud

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https://doi.org/10.1212/WNL.0000000000200028

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https://repositorio.udd.cl/handle/11447/7222

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Abstract

Background and objectives: Pathogenic variants in the neuronal sodium channel α1 subunit gene (SCN1A) are the most frequent monogenic cause of epilepsy. Phenotypes comprise a wide clinical spectrum, i...

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Citation

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. Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028

Keywords

Child , Cohort Studies , Early Diagnosis , Epilepsies, Myoclonic / diagnosis , Epilepsies, Myoclonic / genetics , Epilepsy / diagnosis , Epilepsy / genetics , NAV1.1 Voltage-Gated Sodium Channel / genetics , Mutation , Retrospective Studies

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