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Related Experiment Video

Updated: Jun 3, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

SETD1B variants associated with absence seizures.

Genfu Zhang¹, Yue Niu¹, Zhao Xu¹

¹Department of Pediatrics, Peking University People's Hospital, Beijing, China; Epilepsy Center, Peking University People's Hospital, Beijing, China.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society

|January 7, 2025

Summary

This summary is machine-generated.

Genetic variants in SETD1B are associated with absence seizures (ASs) in pediatric patients. These SETD1B alterations may impact neuronal function and contribute to the development of AS, influencing brain development and cognitive function.

Keywords:

Absence seizures Epilepsy Gene SETD1B

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A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy

Published on: July 12, 2021

Area of Science:

Genetics
Neuroscience
Epilepsy Research

Background:

Absence seizures (ASs) are a type of epilepsy with complex genetic underpinnings.
SETD1B gene variants have been implicated in neurodevelopmental disorders, but their specific role in AS remains under investigation.

Purpose of the Study:

To explore the association between variants in the SETD1B gene and the occurrence of absence seizures (ASs).
To investigate the clinical phenotype and genetic landscape of individuals with SETD1B variants and ASs.

Main Methods:

A cohort of four pediatric epilepsy patients with identified SETD1B variants was studied.
Trio-based whole-exome sequencing was used for genetic screening.
A literature review of 50 documented cases of ASs linked to SETD1B alterations was conducted.

Main Results:

Four new cases presented with developmental impediments, cognitive deficits, and epileptic manifestations.
Of 54 individuals, 48.1% had ASs, with a median onset age of 44.8 months.
SETD1B variants in SET domains were found in 46.2% of AS patients, often with cognitive and autistic traits.

Conclusions:

SETD1B variants are potentially influential in the pathogenesis of ASs, possibly by affecting neuronal excitability through histone methylation.
The study highlights the significance of ASs within the SETD1B phenotype and suggests SET domains' role in AS pathogenesis.