par Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu, Chantal;Depondt, ; [et al.]
Référence American journal of human genetics, 108, 6, page (965-982)
Publication Publié, 2021-06-01
Référence American journal of human genetics, 108, 6, page (965-982)
Publication Publié, 2021-06-01
Article révisé par les pairs
Titre: |
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Auteur: | Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu, Chantal; Depondt, ; et al. |
Informations sur la publication: | American journal of human genetics, 108, 6, page (965-982) |
Statut de publication: | Publié, 2021-06-01 |
Sujet CREF: | Neurologie |
Mots-clés: | ClinVar |
Epi25 | |
Louvain | |
epilepsy | |
epileptic encephalopathy | |
focal epilepsy | |
generalized epilepsy | |
intolerance | |
seizures | |
whole-exome sequencing | |
MeSH keywords: | Case-Control Studies |
Cohort Studies | |
Epilepsy -- classification -- genetics -- pathology | |
Exome | |
Genetic Markers | |
Genetic Predisposition to Disease | |
Genetic Testing | |
Genetic Variation | |
Humans | |
Phenotype | |
Exome Sequencing -- methods | |
Langue: | Anglais |
Identificateurs: | urn:issn:0002-9297 |
info:doi/10.1016/j.ajhg.2021.04.009 | |
info:pii/S0002-9297(21)00140-3 | |
info:pmid/33932343 | |
PMC8206159 |