Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant.

Objective: This research intends to examine the clinical characteristics and genetic diversity of a child experiencing epilepsy with myoclonic-atonic seizures (EMAS) attributed to a variant in the SLC6A1 gene.

Methods: A male child diagnosed with EMAS underwent clinical and electroencephalographic evaluation. Peripheral blood samples were collected for DNA extraction and subsequent whole-exon gene sequencing.

[Analysis of clinical phenotype and variant of SLC2A1 gene in a Chinese pedigree affected with glucose transporter 1 deficiency syndrome].

Objective: To analyze the clinical phenotype and variant of SLC2A1 gene in a Chinese pedigree affected with glucose transporter type 1 deficiency syndrome (GLUT1-DS).

Methods: Clinical data of a child who was treated due to delayed motor and language development and his family members were collected. DNA was extracted from peripheral blood samples and subjected to high-throughput medical exome sequencing.

[Research progress of epileptic seizure predictions based on electroencephalogram signals].

As a common disease in nervous system, epilepsy is possessed of characteristics of high incidence, suddenness and recurrent seizures. Timely prediction with corresponding rescues and treatments can be regarded as effective countermeasure to epilepsy emergencies, while most accidental injuries can thus be avoided. Currently, how to use electroencephalogram (EEG) signals to predict seizure is becoming a highlight topic in epilepsy researches.