Rare. The importance of research, analysis, reporting and education in ‘solving’ the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE-Reference-Cited by-同舟云学术

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Rare. The importance of research, analysis, reporting and education in ‘solving’ the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE

Published:2023-03 Issue:3 Volume:66 Page:104680
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Nott E.^ORCID,Behl K.E.,Brambilla I.^ORCID,Green T.E.,Lucente M.,Vavassori R.^ORCID,Watson A.,Dalla Bernardina B.,Hildebrand M.S.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference76 articles.

1. CRISPR Gene Editing Research Funded for Alternating Hemiplegia of Childhood,2021

2. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies;Arsov;Ann. Neurol.,2012

3. ATP1A3 in Disease 8th Symposium. Abstracts of the 8th Symposium on ATP1A3 in Disease. In ATP1A3 in Disease 8th Symposium,2019

4. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood;Bassi;J. Med. Genet.,2004

5. The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009;Bayat;Epilepsia,2015

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1. Evidence‐based consensus guidelines for ALS genetic testing and counseling;Annals of Clinical and Translational Neurology;2023-09-10

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