Epilepsy genetics: clinical impacts and biological insights
Author:
Funder
NRSA
Publisher
Elsevier BV
Subject
Clinical Neurology
Reference72 articles.
1. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy;Steinlein;Nat Genet,1995
2. Primer part 1—the building blocks of epilepsy genetics;Helbig;Epilepsia,2016
3. ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology;Scheffer;Epilepsia,2017
4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015
5. ClinGen—the clinical genome resource;Rehm;N Engl J Med,2015
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