Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants-Reference-Cited by-同舟云学术

Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants

Published:2021-05 Issue:2 Volume:22 Page:105-115
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Rampazzo Ana Carla Mondek^ORCID,dos Santos Rafael Rodrigues Pinheiro^ORCID,Maluf Fernando Arfux^ORCID,Simm Renata Faria,Marson Fernando Augusto Lima^ORCID,Ortega Manoela Marques^ORCID,de Aguiar Paulo Henrique Pires^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-021-00644-7.pdf

Reference28 articles.

1. Scheffer IE (2012) Diagnosis and long-term course of Dravet syndrome. Eur J Paediatr Neurol 16:S5. https://doi.org/10.1016/j.ejpn.2012.04.007

2. League I, Epilepsy A (1985) Proposal for classification of epilepsies and epileptic syndromes. Epilepsia 26:268–278. https://doi.org/10.1111/j.1528-1157.1985.tb05417.x

3. Wu YW, Sullivan J, McDaniel SS, Meisler MH, Walsh EM, Li SX et al (2015) Incidence of dravet syndrome in a US population. Pediatrics 136:e1310–e1315. https://doi.org/10.1542/peds.2015-1807

4. Bayat A, Hjalgrim H, Møller RS (2015) The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009. Epilepsia 56:e36–e39. https://doi.org/10.1111/epi.12927

5. Fountain-Capal JK, Holland KD, Gilbert DL, Hallinan BE (2011) When should clinicians order genetic testing for dravet syndrome? Pediatr Neurol 45:319–323. https://doi.org/10.1016/j.pediatrneurol.2011.08.001

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Dravet-like syndrome with PCDH19 mutations in Taiwan ― A multicenter study;Pediatrics & Neonatology;2024-08

2. NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy;International Journal of Molecular Sciences;2024-05-24

3. The Genetic Facets of Dravet Syndrome: Recent Insights;Annals of Child Neurology;2024-04-01

4. Impact of variant subtype on electro-clinical phenotype of Dravet syndrome- a South Indian cohort study;Seizure: European Journal of Epilepsy;2024-02

5. Identification of novel and de novo variant in the SCN1A gene confirms Dravet syndrome in Moroccan child: a case report;Molecular Biology Reports;2024-01-28