Zhongguo Dang Dai Er Ke Za Zhi
Department of Pediatrics, Peking University First Hospital, Beijing100034, China.
Published: July 2014
Objective: To study the relationship between STXBP1 gene mutations and refractory seizures with unknown causes in newborns.
Methods: The coding region of STXBP1 gene was detected using direct Sanger sequencing in 11 newborns with refractory seizures of unknown causes.
Results: STXBP1 gene mutation was found in 1 out of 11 patients. It was a missense mutation: c.1439C>T (p.P480L).
Conclusions: STXBP1 gene mutation can be found in neonatal refractory seizures of unknown causes, suggesting a new approach of further research of this disease.
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Genet Med Open
April 2024
Department of Pediatrics, Boston Children's Hospital, Boston, MA.
Purpose: Limited knowledge about disease mechanisms, few published cases, and the lack of functional assessment of variants for neurodevelopmental genetic disorders challenge diagnostic classification for variants and increase the frequency of variants of uncertain significance (VUS). Because inheritance patterns aid in variant interpretation for neurodevelopmental conditions, genetic testing including only the proband leads to larger numbers of VUS than testing strategies that include the parents.
Methods: We reinterpreted genetic variants submitted to the Simons Searchlight research registry using American College of Medical Genetics and Genomics variant interpretation guidelines, familial cascade testing, and literature curation with annual VUS reevaluation.
Ann Med
December 2024
Department of Neurology, Liaocheng People's Hospital, Shandong University, Jinan, P.R. China.
Objectives: This study aimed to identify key genes related to copper metabolism in Parkinson's disease (PD), providing insight into their roles in disease progression.
Methods: Using bioinformatic analyses, the study identified hub genes related to copper metabolism in PD patients. Differentially expressed genes (DEGs) were identified using the limma package, and copper-metabolism-related genes (CMRGs) were sourced from the Genecard database.
Cannabidiol (CBD) is a compound found specifically in the cannabis plant. Although a clinical trial for intractable epilepsy started in Japan in 2023, it is also available in the market as a dietary supplement. Herein, we report two cases of identical twins with developmental and epileptic encephalopathy with gene mutation who achieved seizure suppression through different regimens of CBD supplementation.
View Article and Find Full Text PDFSeizure
December 2024
Medipol University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Istanbul, Turkiye.
Objective: To evaluate the etiology-specific diagnosis of early-onset developmental epileptic encephalopathies (EO-DEEs) in a nationwide Turkish cohort to determine the implications for therapeutic management.
Methods: The cohort comprised 1450 patients who underwent EO-DEE. The utility of genetic testing was assessed with respect to the initial phases of next generation sequencing (NGS) (2005-2013) and the current NGS era (2014-2022).
Mol Syndromol
October 2024
Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
Introduction: Pathogenic variants in the gene are associated to a large spectrum of severe early onset developmental and epileptic encephalopathies (OMIM #612164). They were also identified in various other neurodevelopmental disorders. This gene encodes for the syntaxin-binding protein 1, a member of the SEC-1 family of membrane-transport proteins that modulate the presynaptic vesicular fusion by interacting with soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs).
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