ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder
Contributeurs/tricesOates, Stephanie![orcid](assets/images/orcid.png)
; Absoud, Michael; Goyal, Sushma; Bayley, Sophie; Baulcomb, Jennifer; Sims, Annemarie; Riddett, Amy; Allis, Katrina; Brasch-Andersen, Charlotte![orcid](assets/images/orcid.png)
; Balasubramanian, Meena; Bai, Renkui; Callewaert, Bert; Hüffmeier, Ulrike![orcid](assets/images/orcid.png)
; Le Duc, Diana![orcid](assets/images/orcid.png)
; Radtke, Maximilian; Korff, Christian![orcid](assets/images/orcid.png)
; Kennedy, Joanna; Low, Karen![orcid](assets/images/orcid.png)
; Møller, Rikke S![orcid](assets/images/orcid.png)
; Nielsen, Jens Erik Klint; Popp, Bernt![orcid](assets/images/orcid.png)
; Quteineh, Lina; Rønde, Gitte; Schönewolf-Greulich, Bitten![orcid](assets/images/orcid.png)
; Shillington, Amelle![orcid](assets/images/orcid.png)
; Taylor, Matthew Rg![orcid](assets/images/orcid.png)
; Todd, Emily; Torring, Pernille M![orcid](assets/images/orcid.png)
; Tümer, Zeynep![orcid](assets/images/orcid.png)
; Vasileiou, Georgia![orcid](assets/images/orcid.png)
; Yates, T Michael![orcid](assets/images/orcid.png)
; Zweier, Christiane; Rosch, Richard![orcid](assets/images/orcid.png)
; Basson, M Albert; Pal, Deb K![orcid](assets/images/orcid.png)
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Publié dansClinical genetics, vol. 100, no. 4, p. 412-429
Date de mise en ligne2021-07-16
Résumé
Mots-clés
- EEG
- Antiepileptic drug
- Autism
- Bromodomain
- Comorbidity
- Epigenetic
- Histone H3.3
- Seizure
- Adolescent
- Adult
- Alleles
- Amino Acid Substitution
- Cell Cycle Proteins / genetics
- Child
- Child, Preschool
- Co-Repressor Proteins / genetics
- DNA-Binding Proteins / genetics
- Databases, Factual
- Electroencephalography
- Epilepsy / diagnosis
- Epilepsy / genetics
- Epilepsy / therapy
- Epilepsy, Generalized / diagnosis
- Epilepsy, Generalized / genetics
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genetic Testing
- Genetic Variation
- Genotype
- Humans
- Male
- Middle Aged
- Mutation
- Neurodevelopmental Disorders / diagnosis
- Neurodevelopmental Disorders / genetics
- Phenotype
- Young Adult
Citation (format ISO)
OATES, Stephanie et al. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. In: Clinical genetics, 2021, vol. 100, n° 4, p. 412–429. doi: 10.1111/cge.14023
Fichiers principaux (1)
Article (Accepted version)
![accessLevelPublic](assets/images/access-level-free.png)
Identifiants
- PID : unige:170838
- DOI : 10.1111/cge.14023
- PMID : 34216016
URL commercialhttps://onlinelibrary.wiley.com/doi/10.1111/cge.14023
ISSN du journal0009-9163