De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences

scientific article published on 24 May 2019

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/EPI4.12339
P932PMC publication ID6698685
P698PubMed publication ID31440728

P50authorTakuya HiraideQ92743190
P2093author name stringHirotomo Saitsu
Mitsuko Nakashima
Shinji Saitoh
Ayako Hattori
Daisuke Ieda
Ikumi Hori
P2860cites workMeta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityQ48133294
Dynamic association of epigenetic H3K4me3 and DNA 5hmC marks in the dorsal hippocampus and anterior cingulate cortex following reactivation of a fear memory.Q48295215
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.Q48799738
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.Q50098318
Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene.Q50803451
Histone H3 lysine K4 methylation and its role in learning and memoryQ60919338
Epilepsy with myoclonic absencesQ81453655
Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complexQ24299989
Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASSQ24320097
Histone methylation regulates memory formation.Q24632499
Accurate and exact CNV identification from targeted high-throughput sequence dataQ33870567
Histone trimethylation by Set1 is coordinated by the RRM, autoinhibitory, and catalytic domainsQ33937210
Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depthQ36358463
Increased co-expression of genes harboring the damaging de novo mutations in Chinese schizophrenic patients during prenatal developmentQ36371011
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretationQ38597273
Ictal single photon emission computed tomography of myoclonic absence seizuresQ38617135
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.Q38779251
Prevalence and architecture of de novo mutations in developmental disordersQ38991782
Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenaseQ46717409
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.Q47252096
Myoclonic Absence Seizures in Dravet SyndromeQ47792312
P433issue3
P921main subjectintellectual disabilityQ183560
autism spectrum disorderQ1436063
disability affecting intellectual abilitiesQ3317827
epilepsy with myoclonic absencesQ55788679
P304page(s)476-481
P577publication date2019-05-24
P1433published inEpilepsia OpenQ50817756
P1476titleDe novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences
P478volume4

Reverse relations

Q92743194A de novo TOP2B variant associated with global developmental delay and autism spectrum disordercites workP2860

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