Latest Research in Epilepsy research and treatment

19 research papers · 0.2 average citations · 2026 median publication year

Top Research Topics in Epilepsy research and treatment

Highest-Cited Papers

  1. A frequentist test of proportional colocalization after selecting relevant genetic variants (3 citations)
  2. Genetic Regulation of DNA Methylation and Its Mediating Role in Blood Pressure: A Genome‐Wide Twin Study
  3. Phenylbutyrate-Responsive SLC6A1 -Related Neurodevelopmental Disorder Associated With a Familial Variant
  4. Novel and Emerging Therapies for Childhood‐Onset Movement Disorders
  5. Genetic Diagnosis in Epilepsy: Implications for Clinical Management
  6. Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report
  7. Real-world clinical utility of exome sequencing in pediatric drug-resistant epilepsy: Experience from a tertiary center in Thailand
  8. Whole genome sequencing of 1427 Mexican individuals from the oriGen cohort
  9. An East Asian blood eQTL meta-analysis highlights ancestry-matched eQTL resources for complex-trait genetics
  10. Differential Metabolomes in Claudicating and Chronic Limb Threatening Ischemia Limb Muscles
  11. Genomic scale and Clinical genetics: a review of human DNA sequencing data and point mutation
  12. Transcriptomic Architecture of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) Risk in Mexican Americans
  13. Epigenomic Cascades Across Organs in Metabolic Dysfunction–Associated Steatotic Liver Disease: New Therapeutic Horizons
  14. A rapid LNA-PCR assay from blood lysate without DNA purification for the diagnosis of homozygous SMN1 deletion in spinal muscular atrophy
  15. From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort
  16. Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study
  17. Constitutional Ring Chromosomes in Greek Pediatric Patients: A 50-year Single-center Cytogenetic Study
  18. Immune Cell–Specific SMN Expression and Sustained Immune Alterations in Treated Spinal Muscular Atrophy
  19. Gene-Environment Interaction in Nonfamilial Corticobasal Syndrome in Monozygotic Twins With Differential Occupational Exposure
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L3 Region - - 2026 Sep Q3

Epilepsy research and treatment

19 papers
0.2 avg cites

Top Topics (10)

Genomics and Rare Diseases4
Epilepsy research and treatment4
Liver Disease Diagnosis and Treatment2
Neurogenetic and Muscular Disorders Research2
Epigenetics and DNA Methylation1
Amino Acid Enzymes and Metabolism1
Forensic and Genetic Research1
Genetic Associations and Epidemiology1
Muscle Physiology and Disorders1
Genomic variations and chromosomal abnormalities1

Top Publications (19)

1.A frequentist test of proportional colocalization after selecting relevant genetic variants3c2.Genetic Regulation of DNA Methylation and Its Mediating Role in Blood Pressure: A Genome‐Wide Twin Study3.Phenylbutyrate-Responsive SLC6A1 -Related Neurodevelopmental Disorder Associated With a Familial Variant4.Novel and Emerging Therapies for Childhood‐Onset Movement Disorders5.Genetic Diagnosis in Epilepsy: Implications for Clinical Management6.Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report7.Real-world clinical utility of exome sequencing in pediatric drug-resistant epilepsy: Experience from a tertiary center in Thailand8.Whole genome sequencing of 1427 Mexican individuals from the oriGen cohort9.An East Asian blood eQTL meta-analysis highlights ancestry-matched eQTL resources for complex-trait genetics10.Differential Metabolomes in Claudicating and Chronic Limb Threatening Ischemia Limb Muscles11.Genomic scale and Clinical genetics: a review of human DNA sequencing data and point mutation12.Transcriptomic Architecture of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) Risk in Mexican Americans13.Epigenomic Cascades Across Organs in Metabolic Dysfunction–Associated Steatotic Liver Disease: New Therapeutic Horizons14.A rapid LNA-PCR assay from blood lysate without DNA purification for the diagnosis of homozygous SMN1 deletion in spinal muscular atrophy15.From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort16.Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study17.Constitutional Ring Chromosomes in Greek Pediatric Patients: A 50-year Single-center Cytogenetic Study18.Immune Cell–Specific SMN Expression and Sustained Immune Alterations in Treated Spinal Muscular Atrophy19.Gene-Environment Interaction in Nonfamilial Corticobasal Syndrome in Monozygotic Twins With Differential Occupational Exposure
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