Clinical phenotype and genotype of children with GABAA receptor α1 subunit gene-related epilepsy

• DOI: 10.3389/fneur.2022.941054
• Publication Date: 2022-07-21T08:35:39Z
• Authors: Linlin Zhang; Xinjie Liu
• Keywords: GEFS+; GABRA1; Neurology; epilepsy; Neurology. Diseases of the nervous system; West syndrome; RC346-429; Dravet syndrome; 3. Good health

This study aimed to summarize the clinical phenotype and genotype of children with epilepsy caused by GABRA1 gene variants. Eight patients, who were admitted Qilu Hospital Shandong University from 2015 2021, enrolled in study. variants detected whole-exome sequencing. Epilepsy manifestations, electroencephalography, neuroimaging characteristics treatment methods retrospectively analyzed. Among eight four males females. onset age was between 3 8 months age. Two patients had a family history epilepsy. Six cases de novo variants, two hereditary carried same pathogenic five novel that not been reported internationally. The types seizures diverse, including focal cases, generalized tonic-clonic spasms cases. Electroencephalography seven showed abnormal background rhythms, six discharge during interictal period. No obvious abnormalities found on magnetic resonance imaging All different degrees developmental retardation. De are more common than inherited most symptoms begin first year life, manifesting variety seizure delays. Conventional usually involves one or drugs; although drug can control some cognitive deficits often exist. newly discovered enrich variant spectrum.