De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences-Reference-Cited by-同舟云学术

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

Published:2019-05-24 Issue:3 Volume:4 Page:476-481
ISSN:2470-9239
Container-title:Epilepsia Open
language:en
Short-container-title:Epilepsia Open

Author:

Hiraide Takuya¹²^ORCID,Hattori Ayako³,Ieda Daisuke³,Hori Ikumi³,Saitoh Shinji³,Nakashima Mitsuko¹,Saitsu Hirotomo¹

Affiliation:

1. Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan

2. Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan

3. Department of Pediatrics and Neonatology Nagoya City University, Graduate School of Medical Sciences Aichi Japan

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/epi4.12339

Reference22 articles.

1. Epilepsy with Myoclonic absences

2. Genetic and neurodevelopmental spectrum ofSYNGAP1-associated intellectual disability and epilepsy

3. Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase

4. Myoclonic Absence Seizures in Dravet Syndrome

5. Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene

Cited by 31 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Unraveling the genetic basis of epilepsy: Recent advances and implications for diagnosis and treatment;Brain Research;2024-11

2. 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

3. Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports;World Journal of Clinical Cases;2024-01-16

4. Phenotypic spectrum of SETD1B-related disorder: Myoclonic absence seizures and concurrent intellectual disability - Insights from two cases;Seizure: European Journal of Epilepsy;2024-01

5. 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

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