[Analysis of SYNE1 gene variant in an infant featuring epilepsy and developmental disorders]
Xinli Zhang1, Xueping Shen, Liming Pan
1Huzhou Maternity and Child Health Care Hospital, Huzhou, Zhejiang 313000, China. xinli.66@163.com.
Insights
A novel SYNE1 gene variant was identified in a child with infantile epilepsy and developmental disorders. This genetic finding offers insight into the molecular basis of these complex neurological conditions.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Infantile epilepsy and developmental disorders present significant clinical challenges.
- Understanding the genetic underpinnings is crucial for diagnosis and management.
Objective:
To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders.
Methods:
Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing.
Results:
The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c.3842T to G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies.
Conclusion:
A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.
More Related Videos
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
01:24Epilepsy and Seizures: Overview
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
01:13Seizures: Classification
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
01:20Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
01:33Pleiotropy
01:09Epistasis Analysis