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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

Stephanie Oates, Michael Absoud, Sushma Goyal, Sophie Bayley, Jennifer Baulcomb, Annemarie Sims, Amy Riddett, Katrina Allis, Charlotte Brasch-Andersen, Meena Balasubramanian, et al.
(2021) CLINICAL GENETICS. 100(4). p.412-429
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Abstract
ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We expand on the epilepsy phenotype of 20 individuals with pathogenic variants in ZMYND11. We obtained clinical descriptions of 16 new and nine published individuals, plus detailed case history of two children. New individuals were identified through GeneMatcher, ClinVar and the European Network for Therapies in Rare Epilepsy (NETRE). Genetic evaluation was performed using gene panels or exome sequencing; variants were classified using American College of Medical Genetics (ACMG) criteria. Individuals with ZMYND11 associated epilepsy fell into three groups: (i) atypical benign partial epilepsy or idiopathic focal epilepsy (n = 8); (ii) generalised epilepsies/infantile epileptic encephalopathy (n = 4); (iii) unclassified (n = 8). Seizure prognosis ranged from spontaneous remission to drug resistant. Neurodevelopmental deficits were invariable. Dysmorphic features were variable. Variants were distributed across the gene and mostly de novo with no precise genotype-phenotype correlation. ZMYND11 is one of a small group of chromatin reader genes associated in the pathogenesis of epilepsy, and specifically ABPE. More detailed epilepsy descriptions of larger cohorts and functional studies might reveal genotype-phenotype correlation. The epileptogenic mechanism may be linked to interaction with histone H3.3.
Keywords
antiepileptic drug, autism, bromodomain, comorbidity, EEG, epigenetic, histone H3, 3, seizure, BENIGN PARTIAL EPILEPSY, GRIN2A MUTATIONS, LAYER 6, GENE, TRANSCRIPTION, SPECTRUM, PROTEIN, BS69, RECOGNITION, ASSOCIATION

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MLA
Oates, Stephanie, et al. “ZMYND11 Variants Are a Novel Cause of Centrotemporal and Generalised Epilepsies with Neurodevelopmental Disorder.” CLINICAL GENETICS, vol. 100, no. 4, 2021, pp. 412–29, doi:10.1111/cge.14023.
APA
Oates, S., Absoud, M., Goyal, S., Bayley, S., Baulcomb, J., Sims, A., … Pal, D. K. (2021). ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. CLINICAL GENETICS, 100(4), 412–429. https://doi.org/10.1111/cge.14023
Chicago author-date
Oates, Stephanie, Michael Absoud, Sushma Goyal, Sophie Bayley, Jennifer Baulcomb, Annemarie Sims, Amy Riddett, et al. 2021. “ZMYND11 Variants Are a Novel Cause of Centrotemporal and Generalised Epilepsies with Neurodevelopmental Disorder.” CLINICAL GENETICS 100 (4): 412–29. https://doi.org/10.1111/cge.14023.
Chicago author-date (all authors)
Oates, Stephanie, Michael Absoud, Sushma Goyal, Sophie Bayley, Jennifer Baulcomb, Annemarie Sims, Amy Riddett, Katrina Allis, Charlotte Brasch-Andersen, Meena Balasubramanian, Renkui Bai, Bert Callewaert, Ulrike Hueffmeier, Diana Le Duc, Maximilian Radtke, Christian Korff, Joanna Kennedy, Karen Low, Rikke S. Moller, Jens Erik Klint Nielsen, Bernt Popp, Lina Quteineh, Gitte Ronde, Bitten Schoenewolf-Greulich, Amelle Shillington, Matthew R. G. Taylor, Emily Todd, Pernille M. Torring, Zeynep Tuemer, Georgia Vasileiou, T. Michael Yates, Christiane Zweier, Richard Rosch, M. Albert Basson, and Deb K. Pal. 2021. “ZMYND11 Variants Are a Novel Cause of Centrotemporal and Generalised Epilepsies with Neurodevelopmental Disorder.” CLINICAL GENETICS 100 (4): 412–429. doi:10.1111/cge.14023.
Vancouver
1.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, et al. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. CLINICAL GENETICS. 2021;100(4):412–29.
IEEE
[1]
S. Oates et al., “ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder,” CLINICAL GENETICS, vol. 100, no. 4, pp. 412–429, 2021.
@article{8733220,
  abstract     = {{ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We expand on the epilepsy phenotype of 20 individuals with pathogenic variants in ZMYND11. We obtained clinical descriptions of 16 new and nine published individuals, plus detailed case history of two children. New individuals were identified through GeneMatcher, ClinVar and the European Network for Therapies in Rare Epilepsy (NETRE). Genetic evaluation was performed using gene panels or exome sequencing; variants were classified using American College of Medical Genetics (ACMG) criteria. Individuals with ZMYND11 associated epilepsy fell into three groups: (i) atypical benign partial epilepsy or idiopathic focal epilepsy (n = 8); (ii) generalised epilepsies/infantile epileptic encephalopathy (n = 4); (iii) unclassified (n = 8). Seizure prognosis ranged from spontaneous remission to drug resistant. Neurodevelopmental deficits were invariable. Dysmorphic features were variable. Variants were distributed across the gene and mostly de novo with no precise genotype-phenotype correlation. ZMYND11 is one of a small group of chromatin reader genes associated in the pathogenesis of epilepsy, and specifically ABPE. More detailed epilepsy descriptions of larger cohorts and functional studies might reveal genotype-phenotype correlation. The epileptogenic mechanism may be linked to interaction with histone H3.3.}},
  author       = {{Oates, Stephanie and Absoud, Michael and Goyal, Sushma and Bayley, Sophie and Baulcomb, Jennifer and Sims, Annemarie and Riddett, Amy and Allis, Katrina and Brasch-Andersen, Charlotte and Balasubramanian, Meena and Bai, Renkui and Callewaert, Bert and Hueffmeier, Ulrike and Le Duc, Diana and Radtke, Maximilian and Korff, Christian and Kennedy, Joanna and Low, Karen and Moller, Rikke S. and Nielsen, Jens Erik Klint and Popp, Bernt and Quteineh, Lina and Ronde, Gitte and Schoenewolf-Greulich, Bitten and Shillington, Amelle and Taylor, Matthew R. G. and Todd, Emily and Torring, Pernille M. and Tuemer, Zeynep and Vasileiou, Georgia and Yates, T. Michael and Zweier, Christiane and Rosch, Richard and Basson, M. Albert and Pal, Deb K.}},
  issn         = {{0009-9163}},
  journal      = {{CLINICAL GENETICS}},
  keywords     = {{antiepileptic drug,autism,bromodomain,comorbidity,EEG,epigenetic,histone H3,3,seizure,BENIGN PARTIAL EPILEPSY,GRIN2A MUTATIONS,LAYER 6,GENE,TRANSCRIPTION,SPECTRUM,PROTEIN,BS69,RECOGNITION,ASSOCIATION}},
  language     = {{eng}},
  number       = {{4}},
  pages        = {{412--429}},
  title        = {{ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder}},
  url          = {{http://doi.org/10.1111/cge.14023}},
  volume       = {{100}},
  year         = {{2021}},
}
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