Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference44 articles.
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1. Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions;npj Genomic Medicine;2024-04-06
2. Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE;Epilepsia Open;2024-03-22
3. Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multicenter consensus reporting guidelines;2023-09-14
4. The evolution of comprehensive genetic analysis in neurology: Implications for precision medicine;Journal of the Neurological Sciences;2023-04
5. A new look at the clinical and molecular characteristics of SCN1A-related developmental and epileptic encephalopathies;Aktualności Neurologiczne;2022-12-07
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