Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

Monica Frega; Martijn Selten; Britt Mossink; Jason M. Keller; Katrin Linda; Rebecca Moerschen; Jieqiong Qu; Pierre Koerner; Sophie Jansen; Astrid Oudakker; Tjitske Kleefstra; Hans van Bokhoven; Huiqing Zhou; Dirk Schubert; Nael Nadif Kasri

doi:10.1016/j.celrep.2019.12.002

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

Monica Frega, Martijn Selten, Britt Mossink, Jason M. Keller, Katrin Linda, Rebecca Moerschen, Jieqiong Qu, Pierre Koerner, Sophie Jansen, Astrid Oudakker, Tjitske Kleefstra, Hans van Bokhoven, Huiqing Zhou, Dirk Schubert, Nael Nadif Kasri^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

Frega et al. show that mutations in functionally distinct genes leading to Kleefstra syndrome converge at the molecular, cellular, and neuronal network levels. KSS gene deficiency leads to hyperactive neuronal network communication and altered excitatory-inhibitory balance. Common biological pathways related to ion-channel expression and synaptic communication underlie this functional convergence.

Original language	English
Pages (from-to)	173-186.e6
Journal	Cell reports
Volume	30
Issue number	1
DOIs	https://doi.org/10.1016/j.celrep.2019.12.002
Publication status	Published - 7 Jan 2020
Externally published	Yes

Keywords

autism
EHMT1
intellectual disability
Kleefstra syndrome spectrum
micro-electrode arrays
neurodevelopmental disorder
neuronal networks

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10.1016/j.celrep.2019.12.002Licence: CC BY-NC-ND

Frega-2020-Distinct-pathogenic-genes-causing-iFinal published version, 5.08 MBLicence: CC BY-NC-ND

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Frega, M., Selten, M., Mossink, B., Keller, J. M., Linda, K., Moerschen, R., Qu, J., Koerner, P., Jansen, S., Oudakker, A., Kleefstra, T., van Bokhoven, H., Zhou, H., Schubert, D., & Nadif Kasri, N. (2020). Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype. Cell reports, 30(1), 173-186.e6. https://doi.org/10.1016/j.celrep.2019.12.002

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title = "Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype",

abstract = "Frega et al. show that mutations in functionally distinct genes leading to Kleefstra syndrome converge at the molecular, cellular, and neuronal network levels. KSS gene deficiency leads to hyperactive neuronal network communication and altered excitatory-inhibitory balance. Common biological pathways related to ion-channel expression and synaptic communication underlie this functional convergence.",

keywords = "autism, EHMT1, intellectual disability, Kleefstra syndrome spectrum, micro-electrode arrays, neurodevelopmental disorder, neuronal networks",

author = "Monica Frega and Martijn Selten and Britt Mossink and Keller, {Jason M.} and Katrin Linda and Rebecca Moerschen and Jieqiong Qu and Pierre Koerner and Sophie Jansen and Astrid Oudakker and Tjitske Kleefstra and {van Bokhoven}, Hans and Huiqing Zhou and Dirk Schubert and {Nadif Kasri}, Nael",

year = "2020",

month = jan,

day = "7",

doi = "10.1016/j.celrep.2019.12.002",

language = "English",

volume = "30",

pages = "173--186.e6",

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Frega, M, Selten, M, Mossink, B, Keller, JM, Linda, K, Moerschen, R, Qu, J, Koerner, P, Jansen, S, Oudakker, A, Kleefstra, T, van Bokhoven, H, Zhou, H, Schubert, D & Nadif Kasri, N 2020, 'Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype', Cell reports, vol. 30, no. 1, pp. 173-186.e6. https://doi.org/10.1016/j.celrep.2019.12.002

TY - JOUR

T1 - Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

AU - Frega, Monica

AU - Selten, Martijn

AU - Mossink, Britt

AU - Keller, Jason M.

AU - Linda, Katrin

AU - Moerschen, Rebecca

AU - Qu, Jieqiong

AU - Koerner, Pierre

AU - Jansen, Sophie

AU - Oudakker, Astrid

AU - Kleefstra, Tjitske

AU - van Bokhoven, Hans

AU - Zhou, Huiqing

AU - Schubert, Dirk

AU - Nadif Kasri, Nael

PY - 2020/1/7

Y1 - 2020/1/7

N2 - Frega et al. show that mutations in functionally distinct genes leading to Kleefstra syndrome converge at the molecular, cellular, and neuronal network levels. KSS gene deficiency leads to hyperactive neuronal network communication and altered excitatory-inhibitory balance. Common biological pathways related to ion-channel expression and synaptic communication underlie this functional convergence.

AB - Frega et al. show that mutations in functionally distinct genes leading to Kleefstra syndrome converge at the molecular, cellular, and neuronal network levels. KSS gene deficiency leads to hyperactive neuronal network communication and altered excitatory-inhibitory balance. Common biological pathways related to ion-channel expression and synaptic communication underlie this functional convergence.

KW - autism

KW - EHMT1

KW - intellectual disability

KW - Kleefstra syndrome spectrum

KW - micro-electrode arrays

KW - neurodevelopmental disorder

KW - neuronal networks

UR - http://www.scopus.com/inward/record.url?scp=85077340071&partnerID=8YFLogxK

U2 - 10.1016/j.celrep.2019.12.002

DO - 10.1016/j.celrep.2019.12.002

M3 - Article

C2 - 31914384

AN - SCOPUS:85077340071

VL - 30

SP - 173-186.e6

JO - Cell reports

JF - Cell reports

SN - 2211-1247

IS - 1

ER -

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

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