A novel de novo frameshift variant in SETD1B causes epilepsy-Reference-Cited by-同舟云学术

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A novel de novo frameshift variant in SETD1B causes epilepsy

Published:2019-05-20 Issue:8 Volume:64 Page:821-827
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Den Kouhei,Kato Mitsuhiro^ORCID,Yamaguchi Tokito,Miyatake Satoko,Takata Atsushi,Mizuguchi Takeshi,Miyake Noriko,Mitsuhashi Satomi,Matsumoto Naomichi

Funder

Japan Agency for Medical Research and Development

MEXT | Japan Society for the Promotion of Science

Takeda Science Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0617-1.pdf

Reference20 articles.

1. Hiraide T, Nakashima M, Yamoto K, Fukuda T, Kato M, Ikeda H, et al. De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. Hum Genet. 2018;137:95–104.

2. Brici D, Zhang Q, Reinhardt S, Dahl A, Hartmann H, Schmidt K, et al. Setd1b, encoding a histone 3 lysine 4 methyltransferase, is a maternal effect gene required for the oogenic gene expression program. Development. 2017;144:2606–17.

3. Bledau AS, Schmidt K, Neumann K, Hill U, Ciotta G, Gupta A, et al. The H3K4 methyltransferase Setd1a is first required at the epiblast stage, whereas Setd1b becomes essential after gastrulation. Development. 2014;141:1022–35.

4. Lee JH, Tate CM, You JS, Skalnik DG. Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex. J Biol Chem. 2007;282:13419–28.

5. Jenuwein T, Laible G, Dorn R, Reuter G. SET domain proteins modulate chromatin domains in eu- and heterochromatin. Cell Mol life Sci: Cmls. 1998;54:80–93.

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1. Phenotypes of autism spectrum disorder and schizoaffective disorder associated with SETD1B gene but without intellectual disability and seizures;International Journal of Developmental Neuroscience;2024-08-21

2. Epilepsy with Eyelid Myoclonia with atonic seizures and generalized paroxysmal fast activity: a novel electroclinical phenotype associated with SETD1B pathogenic variant;Epileptic Disorders;2023-12-18

3. The role of histone methyltransferases in neurocognitive disorders associated with brain size abnormalities;Frontiers in Neuroscience;2023-02-10

4. Rare diseases of epigenetic origin: Challenges and opportunities;Frontiers in Genetics;2023-02-06

5. Epigenetic genes and epilepsy — emerging mechanisms and clinical applications;Nature Reviews Neurology;2022-07-20

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