Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.braindev.2010.05.010 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Biallelic Mutations in ADAM22 Presenting as Ohtahara Syndrome in an Indian Family: Expanding the Electroclinical Phenotype of ADAM22-Related Neurologic Disorder.
Ann Indian Acad Neurol
January 2025
Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
A De Novo Splicing Mutation of in Epileptic Encephalopathy Associated with Hypomyelinating Leukodystrophy.
Int J Mol Sci
October 2024
Department of Cell Biology, and Genetics, Institute of Molecular Medicine, and Oncology, Chongqing Medical University, Chongqing 400016, China.
Deleterious variations in are responsible for early infantile epileptic encephalopathy type 4 (EIEE4, OMIM # 612164) because of its dysfunction in the central nervous system. The clinical spectrum of the neurodevelopmental delays associated with STXBP1 aberrations is collectively defined as encephalopathy (-E), the conspicuous features of which are highlighted by early-onset epileptic seizures without structural brain anomalies. A girl was first diagnosed with unexplained disorders of movement and cognition, which later developed into -E with unexpected leukoaraiosis and late onset of seizures.
View Article and Find Full Text PDFMolecular Phenotypes Segregate Missense Mutations in SLC13A5 Epilepsy.
J Mol Biol
November 2024
Department of Cell Biology and Biochemistry, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA. Electronic address:
The sodium-coupled citrate transporter (NaCT, SLC13A5) mediates citrate uptake across the plasma membrane via an inward Na gradient. Mutations in SLC13A5 cause early infantile epileptic encephalopathy type-25 (EIEE25, SLC13A5 Epilepsy) due to impaired citrate uptake in neurons and astrocytes. Despite clinical identification of disease-causing mutations, underlying mechanisms and cures remain elusive.
View Article and Find Full Text PDFNeuromodulation strategies in developmental and epileptic encephalopathies.
Epilepsy Behav
November 2024
Department of Neurosurgery, Mass General Brigham, Harvard Medical School, Boston, MA 02115, USA.
Article Synopsis
- Developmental and epileptic encephalopathies (DEEs) are serious childhood epilepsy syndromes with frequent seizures and significant cognitive impairments, often not responding to standard treatments.
- Recent advancements in neuromodulation techniques like deep brain stimulation (DBS) and responsive neurostimulation (RNS) show promise in managing these conditions by targeting specific brain networks involved in seizures.
- Initial findings, particularly with DBS for Lennox-Gastaut syndrome (LGS), indicate some effectiveness, but mixed results across various DEEs highlight the need for a better understanding of brain networks to guide optimal treatment strategies.
Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report.
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).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!