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Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Neurogenetics
January 2025
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
The cytoskeleton, composed of microtubules, intermediate filaments and actin filaments is vital for various cellular functions, particularly within the nervous system, where microtubules play a key role in intracellular transport, cell morphology, and synaptic plasticity. Tubulin-specific chaperones, including tubulin folding cofactors (TBCA, TBCB, TBCC, TBCD, TBCE), assist in the proper formation of α/β-tubulin heterodimers, essential for microtubule stability. Pathogenic variants in these chaperone-encoding genes, especially TBCD, have been linked to Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum (PEBAT, OMIM #604,649), a severe neurodevelopmental disorder.
View Article and Find Full Text PDFExploring the Efficacy and Safety of Vagus Nerve Stimulation for the Treatment of Epilepsy in Patients With Sturge-Weber Syndrome: A Pilot Study.
Pediatr Neurol
January 2025
Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of Epilepsy, Beijing, China; Center of Epilepsy, Beijing Institute of Brain Disorders, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China. Electronic address:
Background: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder, often complicated by epilepsy. Approximately 50% of patients with SWS with epilepsy develop drug-resistant seizures, leaving limited treatment options. Vagus nerve stimulation (VNS) is a known therapy for refractory epilepsy, modulating neural activity to reduce seizures.
View Article and Find Full Text PDFEffects of MeCP2 on chronic seizures and cognitive function in mice with temporal lobe epilepsy.
Epilepsy Res
January 2025
Institute of Neurobiology, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, 76 West Yanta Road, Xi'an City 710061, China; Institute of Neuroscience, Translational Medicine Institute, Xi'an Jiaotong University Health Science Center, 76 West Yanta Road, Xi'an City 710061, China. Electronic address:
Mutations in methyl CpG binding protein 2 (MeCP2) are linked to Rett syndrome, in which epilepsy is one of the most well-described disorders. However, little is known about the specific role of MeCP2 during epileptogenesis. Our previous study has demonstrated that MeCP2 has a unique control on the development of mossy fiber sprouting (MFS) in the epileptic hippocampus.
View Article and Find Full Text PDFNeonatal but not Juvenile Gene Therapy Reduces Seizures and Prolongs Lifespan in SCN1B-Dravet Syndrome Mice.
J Clin Invest
January 2025
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, United States of America.
Dravet syndrome (DS) is a developmental and epileptic encephalopathy (DEE) that begins in the first year of life. While most cases of DS are caused by variants in SCN1A, variants in SCN1B, encoding voltage-gated sodium channel β1 subunits, are also linked to DS or to the more severe early infantile DEE. Both disorders fall under the OMIM term DEE52.
View Article and Find Full Text PDFClinical and genetic spectrum of patients with IRF2BPL syndrome.
J Hum Genet
January 2025
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. IRF2BPL encodes a transcription factor with two zinc-finger domains that potentially downregulate WNT signaling in the nervous system. Pathogenic IRF2BPL variants have been reported to cause developmental delay, seizures, myoclonus epilepsies, autistic spectrum disorder, and other neurodevelopmental disorders.
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