194 results on '"Seizures (Medicine) -- Genetic aspects"'
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2. Pathogenic variants associated with speech/cognitive delay and seizures affect genes with expression biases in excitatory neurons and microglia in developing human cortex
3. Investigators from Columbia University Have Reported New Data on Seizures (Familial Aggregation of Seizure Outcomes In Four Familial Epilepsy Cohorts)
4. GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice
5. Persistent DNA methylation and downregulation of homeostatic genes in astrocytes after pilocarpine-induced status epilepticus: Implications for epileptogenesis
6. Oregon Health & Science University School of Medicine Researcher Provides Details of New Studies and Findings in the Area of Seizures (Surgical Resection of Focal Cortical Dysplasia in a Neonate with Novel TSC1 Mutation Leading to Resolution of ...)
7. A Novel Neuroimaging Phenotype in the X-Linked Intellectual Disability with a Missense Mutation of CNKSR2 Gene
8. Report Summarizes Seizures Study Findings from Department of Pediatrics ('Fifth-day fits' revisited: A literature review of benign idiopathic neonatal seizures and comparison with KCNQ2- and KCNQ3-associated benign familial epilepsy syndromes)
9. Colombo North Teaching Hospital Researchers Describe Findings in Epileptic Encephalopathy (Vitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT2 gene: a case report)
10. Reports Outline Seizures Study Results from Sechenov Institute of Evolutionary Physiology and Biochemistry of RAS (Pentylenetetrazole-induced Seizures Cause Short-term Changes In the Phenotype of Microglial and Astroglial Cells In the ...)
11. Study Findings from Islamic Azad University Advance Knowledge in Seizures (A Novel SLC9A6 Mutation Associated with Christianson Syndrome in a Non-Consanguineous Iranian Family: A Case Report)
12. FRALIN BIOMEDICAL RESEARCH INSTITUTE TEAM UNPACKS GENETIC MYSTERIES UNDERLYING CHILDHOOD EPILEPSIES
13. Arid1b haploinsufficiency in pyramidal neurons causes cellular and circuit changes in neocortex but is not sufficient to produce behavioral or seizure phenotypes
14. Institute of Mother and Child Researchers Describe Advances in Epilepsy (* * SCN1A* * -Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience)
15. Gene linked to epilepsy, autism decoded in new study
16. Researchers from Hangzhou Dianzi University Describe Findings in Mathematics (Seizure Detection Algorithm Based On Multidimensional Covariance Matrix and Binary Harris Hawks Optimization With Cauchygaussian Mutation)
17. Impulsivity-linked genes identified in epilepsy
18. Ectopic expression of Miro 1 ameliorates seizures and inhibits hippocampal neurodegeneration in a mouse model of pilocarpine epilepsy
19. Dysfunctional Hippocampal-Prefrontal Network Underlies a Multidimensional Neuropsychiatric Phenotype following Early-Life Seizure (Updated December 24, 2023)
20. FARS2 (phenylalanyl-tRNA synthetase 2) deficiency: A novel mutation associated with EEG phenotype of epilepsy of infancy with migrating focal seizures (EIMFS)
21. Data on Seizures Described by Researchers at Vanderbilt University Medical Center (4-phenylbutyrate Promoted Wild-type G-aminobutyric Acid Type a Receptor Trafficking, Reduced Endoplasmic Reticulum Stress, and Mitigated Seizures In ...)
22. Electrobehavioral phenotype and seizure pharmacosensitivity in a novel mouse model of patient-derived SLC6A1 S295L mutation-associated neurodevelopmental epilepsy
23. Rapidly progressive spastic paraplegia due to hyperhomocysteinemia in child with MTHFR gene mutation and mitochondrial Complex I deficiency: A rare association
24. University of Melbourne Reports Findings in Temporal Lobe Epilepsy (Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture)
25. Investigators from Mahatma Gandhi Institute of Medical Sciences Release New Data on Seizures (Molecular Characterization of De Novo Ring Chromosome 21 In a Child With Seizures, Growth Retardation, and Multiple Congenital Anomalies)
26. Early onset motor defects and electrographic seizures in a mouse model of the most common mutation in EEF1A2 related neurodevelopmental disorder, E122K
27. Fruit flies subjected to TBI exhibit genotype-dependent changes in seizure incidence and duration
28. Treatable cause of refractory seizures in an infant with a novel mutation
29. A novel SCN1A mutation: A case report
30. Diet modifies allele-specific phenotypes in Drosophila carrying epilepsy-associated PNPO variants
31. Differential expression of seizure-related 6 homolog-like 2 in human epithelial ovarian cancer
32. Study Data from University of Toledo Provide New Insights into Doose Syndrome [Novel Gene Abnormality in Epilepsy with Myoclonic-Atonic Seizures (Doose Syndrome)]
33. Researchers Submit Patent Application, 'Gene And Mutations Thereof Associated With Seizure And Movement Disorders', for Approval (USPTO 20230193389)
34. Studies from Peking University Have Provided New Information about Biology (Pka-rii Beta Autophosphorylation Modulates Pka Activity and Seizure Phenotypes In Mice)
35. Characterization of induction methods for Drosophila seizure mutations
36. New Epilepsy Research from China Medical University and Hospital Discussed (A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study)
37. New Medical Genetics Data Have Been Reported by Investigators at Hospital Center Le Vinatier (Multisystem Disorders, Severe Developmental Delay and Seizures In Two Affected Siblings, Expanding the Phenotype of Pigc Deficiency)
38. Researchers from Capital Medical University Report Findings in Seizures (A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report)
39. Researchers at RIKEN Center for Brain Science Report New Data on Gene Therapy (CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice)
40. Reports on Seizures from Vanderbilt University Medical Center Provide New Insights (GABAA receptor b3 subunit mutation D120N causes Lennox-Gastaut syndrome in knock-in mice)
41. An unusual presentation of Menkes disease masquerading as a leukodystrophy with macrocephaly
42. University of Tubingen Reports Findings in Generalized Epilepsy (Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications)
43. Reversal of cell, circuit and seizure phenotypes in a mouse model of DNM1 epileptic encephalopathy
44. Investigators from University Hospital Antwerp Report New Data on Seizures (Adult Phenotype of Kcnq2 Encephalopathy)
45. Researcher at Division of Pediatric Neurology Discusses Research in Seizures (Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review)
46. Research Data from Guizhou University Update Understanding of Microcephaly (Novel compound heterozygous mutations in the AFG3L2 gene in a Chinese child with microcephaly, early-onset seizures, and cerebral atrophy)
47. New Seizures Study Findings Recently Were Reported by Researchers at Fudan University [Identification of a Novel Splicing Variant In the Phosphatidylinositol Glycan Class S (Pigs) Gene That Is Associated With Early Onset Epilepsy, Severe ...]
48. Mild phenotype associated with SLC6A1 gene mutation: A case report with literature review
49. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
50. Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome (Updated February 5, 2023)
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