Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome-Reference-Cited by-同舟云学术

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome

Published:2019-03-28 Issue: Volume:10 Page:
ISSN:1664-2295
Container-title:Frontiers in Neurology
language:
Short-container-title:Front. Neurol.

Author:

Gonsales Marina C.,Montenegro Maria Augusta,Preto Paula,Guerreiro Marilisa M.,Coan Ana Carolina,Quast Monica Paiva,Carvalho Benilton S.,Lopes-Cendes Iscia

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Publisher

Frontiers Media SA

Subject

Clinical Neurology,Neurology

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5. Recent advances in the molecular genetics of epilepsy;Hildebrand;J Med Genet.,2013

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2. An optimized protocol for the creation of constructs expressing sodium channel subunits to be used in functional studies of genetic epilepsies;2023-11-09

3. A case of Dravet syndrome with focal cortical myoclonus;Acta Epileptologica;2022-09-06

4. SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families;Genes;2022-04-25

5. Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A;Frontiers in Molecular Neuroscience;2022-03-14