epilepsy
HP:0001250 · SaudiVarKB evidence summary derived from retained literature mentions.
2,081Phenotype mentions
100Publications
50Associated gene records
50Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| BDNF | HGNC:1033 | 22 | 22 |
| GFAP | HGNC:4235 | 14 | 14 |
| SCN1A | HGNC:10585 | 11 | 11 |
| TSC2 | HGNC:12363 | 7 | 7 |
| SCN2A | HGNC:10588 | 7 | 7 |
| LGI1 | HGNC:6572 | 7 | 7 |
| TSC1 | HGNC:12362 | 6 | 6 |
| SLC19A3 | HGNC:16266 | 6 | 6 |
| TLR4 | HGNC:11850 | 6 | 6 |
| WWOX | HGNC:12799 | 6 | 6 |
| MTHFR | HGNC:7436 | 5 | 5 |
| KCNJ10 | HGNC:6256 | 5 | 5 |
| GABRG2 | HGNC:4087 | 5 | 5 |
| SCN1B | HGNC:10586 | 5 | 5 |
| ABCB1 | HGNC:40 | 4 | 4 |
| ALDH7A1 | HGNC:877 | 4 | 4 |
| ASPM | HGNC:19048 | 4 | 4 |
| SLC2A1 | HGNC:11005 | 4 | 4 |
| SLC13A5 | HGNC:23089 | 4 | 4 |
| STAMBP | HGNC:16950 | 4 | 4 |
| C12orf57 | HGNC:29521 | 4 | 4 |
| DENND5A | HGNC:19344 | 4 | 4 |
| SZT2 | HGNC:29040 | 4 | 4 |
| KCNT1 | HGNC:18865 | 4 | 4 |
| NLRP3 | HGNC:16400 | 3 | 3 |
| TBCE | HGNC:11582 | 3 | 3 |
| GRIN2A | HGNC:4585 | 3 | 3 |
| BCL2 | HGNC:990 | 3 | 3 |
| PI4K2A | HGNC:30031 | 3 | 3 |
| BTD | HGNC:1122 | 3 | 3 |
| SERAC1 | HGNC:21061 | 3 | 3 |
| KCNJ11 | HGNC:6257 | 3 | 3 |
| WDR45B | HGNC:25072 | 3 | 3 |
| ATN1 | HGNC:3033 | 3 | 3 |
| PCCA | HGNC:8653 | 3 | 3 |
| ASNS | HGNC:753 | 3 | 3 |
| HMGB1 | HGNC:4983 | 3 | 3 |
| KCNMA1 | HGNC:6284 | 3 | 3 |
| SCN8A | HGNC:10596 | 3 | 3 |
| ABCC8 | HGNC:59 | 3 | 3 |
| KCNQ2 | HGNC:6296 | 3 | 3 |
| FRRS1L | HGNC:1362 | 3 | 3 |
| SIRT1 | HGNC:14929 | 2 | 2 |
| PAH | HGNC:8582 | 2 | 2 |
| TXNRD2 | HGNC:18155 | 2 | 2 |
| MC2R | HGNC:6930 | 2 | 2 |
| MRAP | HGNC:1304 | 2 | 2 |
| NNT | HGNC:7863 | 2 | 2 |
| SGPL1 | HGNC:10817 | 2 | 2 |
| CACNA1H | HGNC:1395 | 2 | 2 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| rs1801133 | rs1801133 | 3 | 3 |
| p.Thr422Ala | p.Thr422Ala | 3 | 3 |
| c.1A>G | c.1A>G | 3 | 3 |
| c.575C>T | c.575C>T | 1 | 1 |
| p.Pro192Leu | p.Pro192Leu | 1 | 1 |
| c.155_166del | c.155_166del | 1 | 1 |
| c.388C>T | c.388C>T | 1 | 1 |
| c.2660C>T | c.2660C>T | 1 | 1 |
| p.Pro887Leu | p.Pro887Leu | 1 | 1 |
| c.293C>T | c.293C>T | 1 | 1 |
| p.Ser98Phe | p.Ser98Phe | 1 | 1 |
| c.977G>T | c.977G>T | 1 | 1 |
| p.Gly326Val | p.Gly326Val | 1 | 1 |
| c.1278C>A | c.1278C>A | 1 | 1 |
| p.Tyr426* | p.Tyr426* | 1 | 1 |
| p.Val59Glu | p.Val59Glu | 1 | 1 |
| p.Phe216Leu | p.Phe216Leu | 1 | 1 |
| p.Thr180Asn | p.Thr180Asn | 1 | 1 |
| p.Val440Leu | p.Val440Leu | 1 | 1 |
| c.3430T>C | c.3430T>C | 1 | 1 |
| p.Ser1144Pro | p.Ser1144Pro | 1 | 1 |
| c.127G>A | c.127G>A | 1 | 1 |
| p.Ser498Leu | p.Ser498Leu | 1 | 1 |
| c.1372G>C | c.1372G>C | 1 | 1 |
| p.Gly433Ala | p.Gly433Ala | 1 | 1 |
| G433A | G433A | 1 | 1 |
| p.Cys453Trp | p.Cys453Trp | 1 | 1 |
| c.257T>C | c.257T>C | 1 | 1 |
| p.Leu86Pro | p.Leu86Pro | 1 | 1 |
| p.Glu99* | p.Glu99* | 1 | 1 |
| c.1468A>T | c.1468A>T | 1 | 1 |
| p.Lys490Ter | p.Lys490Ter | 1 | 1 |
| rs3755631 | rs3755631 | 1 | 1 |
| rs4679773 | rs4679773 | 1 | 1 |
| rs2820585 | rs2820585 | 1 | 1 |
| rs946420 | rs946420 | 1 | 1 |
| rs1186679 | rs1186679 | 1 | 1 |
| rs61822012 | rs61822012 | 1 | 1 |
| rs1186685 | rs1186685 | 1 | 1 |
| C677T | C677T | 1 | 1 |
| p.Pro107Arg | p.Pro107Arg | 1 | 1 |
| c.1168G>C | c.1168G>C | 1 | 1 |
| p.Gly390Arg | p.Gly390Arg | 1 | 1 |
| rs2032582 | rs2032582 | 1 | 1 |
| rs717620 | rs717620 | 1 | 1 |
| rs2273697 | rs2273697 | 1 | 1 |
| rs762551 | rs762551 | 1 | 1 |
| rs3745274 | rs3745274 | 1 | 1 |
| p.R664* | p.R664* | 1 | 1 |
| p.Gly342Arg | p.Gly342Arg | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsSupporting publications
100 records- 2026Baclofinding solutions: Baclofen-induced encephalopathy in a peritoneal dialysis patient.Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis1 mentions
- 2026An Unstable ATG2A Variant Causes a Neurodegenerative Disorder via Impaired Autophagy and Proteotoxic Stress in Brain Atrophy.Clinical genetics1 mentions
- 2026Topiramate Attenuates Cadmium-Induced Nephrotoxicity Through Modulation of Oxidative Stress, Autophagy, and Apoptosis in Rats.Biological trace element research1 mentions
- 2026Pathogenic DDX39A Variant Disrupts Nuclear Homeostasis and Causes an Early-Onset Neurodegenerative Disorder With Cerebral Atrophy.Clinical genetics1 mentions
- 2026Exploring the Neurobiological Mechanisms of Cancer Growth.Current pharmaceutical design1 mentions
- 2026In Silico Characterization of Bromo-DragonFLY Binding to the 5-HT2A Receptor: Molecular Insights Into a Potent Designer Psychedelic.Proteins1 mentions
- 2026Effects of cell therapy on seizures in animal models of epilepsy: Systematic review and meta-analysis.Epilepsia1 mentions
- 2026Serendipity in antiseizure medication discovery: Unveiling accidental breakthroughs in epilepsy treatments.Journal of the history of the neurosciences1 mentions
- 2026Tiagabine and brivaracetam combination rewire epileptic activity in kainic acid-induced temporal lobe epilepsy model: Multimodal analysis of EEG spectra, behavior and neuroinflammatory modulation.Neuropharmacology1 mentions
- 2026GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.Molecular psychiatry1 mentions
- 2026Severe food protein-induced enterocolitis syndrome with seizures and concern for developmental delay: A case report.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology1 mentions
- 2026Stem cell-based interventions for epilepsy: Current progress and future promise.Epileptic disorders : international epilepsy journal with videotape1 mentions
- 2026Endovascular coiling vs. microsurgical clipping for ruptured anterior circulation aneurysms: an updated meta-analysis with meta-regression.Neuroradiology1 mentions
- 2026Diagnostic performance of neuroimaging modalities for epileptogenic focus localization: A systematic review.Epilepsia open1 mentions
- 2026The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.Brain : a journal of neurology1 mentions
- 2026Oxidative stress and neuronal alteration: Mitochondrial dysfunction as a key player in intractable epilepsy - a narrative review.Pathology, research and practice1 mentions
- 2026Visually-provoked seizures: Consensus of the Epilepsy Foundation Working Group.Epilepsia1 mentions
- 2026Clinical and Genetic Spectrum of SCN8A-Related Disorders: A Retrospective Study From the Gulf Region.Journal of child neurology1 mentions
- 2026A rare case of pythium brain infection presenting as severe neurological deterioration in a pediatric patient: A case report and literature review.Radiology case reports1 mentions
- 2026"Who 'nose' when a seizure will happen?" Prodromal olfactory loss as a first clinical indicator of seizure activity in temporal lobe epilepsy.Epileptic disorders : international epilepsy journal with videotape1 mentions
- 2026Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening.The American journal of case reports1 mentions
- 2026Severe immune rejection leading to refractory peri-electrode edema after DBS: a systematic review and one case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology1 mentions
- 2026Adrenal Crisis Induced by Zoledronic Acid in Two Patients With Hypopituitarism: A Case Report and Literature Review.Case reports in endocrinology1 mentions
- 2026Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.American journal of human genetics1 mentions
- 2026Hybrid quantum classical framework for electroencephalogram driven neurological processing in epileptic seizure taxonomy.Scientific reports1 mentions
- 2026Noise in the diagnosis of epilepsy by experts.Epileptic disorders : international epilepsy journal with videotape1 mentions
- 2026Assessment of public knowledge and perception of stroke, seizures, and subarachnoid hemorrhage among adults aged ≥18 years in Saudi Arabia: A cross-sectional study.Medicine1 mentions
- 2026Efficacy of Levetiracetam Use in Neonatal Seizure: A Retrospective Cohort Study.NeuroSci1 mentions
- 2026MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.American journal of human genetics1 mentions
- 2026Identification of Additional Cases of Severe Neonatal GABA-Transaminase Deficiency.JIMD reports1 mentions
- 2026Clinical Impact of Adjusted Valproic Acid Level in Patients with Hypoalbuminemia: A Single-Center Cohort Study.Journal of clinical pharmacology1 mentions
- 2026From awareness to action: enhancing mothers' knowledge and practices on lead exposure among young children in the Bani-Khaled Village, Minia Governorate.BMC public health1 mentions
- 2026Epidemiological Trends of Idiopathic Epilepsy in Asia: 1990-2021 - An Analysis from the Global Burden of Disease Study 2021.Neuroepidemiology1 mentions
- 2026Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.Epilepsia1 mentions
- 2026Incidentally discovered developmental venous anomaly with an associated white matter changes in a 7-year-old girl: a case report and literature review.Journal of surgical case reports1 mentions
- 2026SBTM: epileptic seizure prediction from EEG signal using deep learning in blockchain-enabled smart healthcare monitoring with IoT networking.Scientific reports1 mentions
- 2026The potential role of COX-2/PGs signaling pathway in epileptogenesis and associated neuroinflammation: collusions or serendipity.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology1 mentions
- 2026Clinical Characteristics and Outcomes of Patients with Amphetamine Associated Emergency Department Visits at a Tertiary Care Hospital in Riyadh, Saudi Arabia.Saudi medical journal1 mentions
- 2026Insights into pediatric epilepsy and systemic autoimmune disorders: A study using the national inpatient database.Paediatrics & child health1 mentions
- 2026Functional tics and tic-like behaviors.Handbook of clinical neurology1 mentions
- 2026Predictors of cognitive impairment in drug-resistant epilepsy: the role of interictal EEG abnormalities.Acta epileptologica1 mentions
- 2026Plasma KCC2, NKCC1, and GABA as peripheral biomarkers in autism spectrum disorder: a combined ROC analysis.Metabolic brain disease1 mentions
- 2026Pharmacokinetic and toxicological evaluation of AB-CHMINACA in rodents: A comprehensive study.Medicine, science, and the law1 mentions
- 2026Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.American journal of human genetics1 mentions
- 2026A nonlinear relationship of evoked responses following charge-balanced single-pulse electrical stimulation with varying pulse widths.Brain stimulation1 mentions
- 2026Exploring the clinical, neuroimaging, and genetic spectrum of PLPBP deficiency: multicenter case series and systematic review.Molecular genetics and metabolism1 mentions
- 2026Real-World Practices in Educating Patients and Caregivers About Sudden Unexpected Death in Epilepsy: A Scoping Review.Saudi journal of medicine & medical sciences1 mentions
- 2026From Annotation to Prediction: Hospital-Grade Early Seizure Risk Prediction from Adult EEG.Diagnostics (Basel, Switzerland)1 mentions
- 2026The Protective Role of Aquaporin 4 (AQP4) in Temporal Lobe Epilepsy: Yes or No?Journal of molecular neuroscience : MN1 mentions
- 2026Giant Colloid Cysts: Evaluating Treatment Approaches and Patient Outcomes through a Case Series and Review of the Literature.Neurologia medico-chirurgica1 mentions
- 2026Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability.NPJ genomic medicine1 mentions
- 2026Robot-assisted versus frame-based stereoelectroencephalography (sEEG) electrode implantation in drug-resistant epilepsy: a meta-analysis of accuracy, efficiency, and safety.Acta neurochirurgica1 mentions
- 2026Advancements in Stem Cell Therapy for Managing Drug-Resistant Epilepsy.Molecular neurobiology1 mentions
- 2026Clinical Presentation of Agenesis of Corpus Callosum Among Children in a Single Tertiary Care Center in Riyadh, Saudi Arabia.Cureus1 mentions
- 2026EEG practices and discontinuation of anti-seizure medications in people with epilepsy: A cross-sectional survey in the Eastern Mediterranean region.Epilepsy research1 mentions
- 2026Burden and Determinants of Adverse Effects from Antiseizure Medications: Insights from Saudi Cohort.Medicina (Kaunas, Lithuania)1 mentions
- 2026Design, Docking, Synthesis, and Biological Evaluation of Pyrazolone Derivatives as Potential Dual-Action Antimicrobial and Antiepileptic Agents.Pharmaceuticals (Basel, Switzerland)1 mentions
- 2026Functional Hemispherectomy for Rasmussen Encephalitis in a Patient with Systemic Lupus Erythematosus and Type 1 Diabetes Mellitus: A Case Report.International medical case reports journal1 mentions
- 2026Combined Surgical Resection and Responsive Neurostimulation for Drug-Resistant Epilepsy: A Case Series.Operative neurosurgery (Hagerstown, Md.)1 mentions
- 2026Retraction Note: Insight into molecular and mutational scrutiny of epilepsy associated gene Gabrg2 leading to novel computer-aided drug designing.Scientific reports1 mentions
- 2026Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.HGG advances1 mentions
- 2026Discovery of New Hydrazonothiazolines as Bovine and Human Carbonic Anhydrase-II Inhibitors: In-vitro, Kinetics, Selectivity and Molecular Dynamics Exploration.Current medicinal chemistry1 mentions
- 2026Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2026Arabic verbal fluency in mesial temporal and generalized epilepsy: evidence from letter and category tasks with healthy controls.Epilepsy & behavior : E&B1 mentions
- 2026Patterns of Response to Treatment and Outcome of Childhood Absence Epilepsy: A Multicenter Study From Saudi Arabia.Pediatric neurology1 mentions
- 2026Effect of Long-term Antiepileptic Medication on Craniofacial Growth Patterns and Orthodontic Treatment Outcomes.Journal of pharmacy & bioallied sciences1 mentions
- 2026Challenges in epilepsy management in the Eastern Mediterranean (Part I): Disparities in pharmacological treatment and ketogenic diet access.Epileptic disorders : international epilepsy journal with videotape1 mentions
- 2026Neonatal invasive meningococcal disease: Clinical case from Saudi Arabia and updated review of reported cases.Journal of infection and public health1 mentions
- 2026Role of video-electroencephalography in the presurgical evaluation of patients with temporal lobe epilepsy due to mesial temporal sclerosis: A retrospective reliability study.Clinical neurology and neurosurgery1 mentions
- 2026New hippuric acid derivatives of prospective MDR AcrAB-TolC efflux pump inhibition, isolated from the fossilized metabolic product of Procavia capensis, in vitro supported computational study.Journal of ethnopharmacology1 mentions
- 2026Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia.Pediatric neurology1 mentions
- 2026Further Evidence for LRRC7 Gene Involvement in Neurodevelopmental Disorder: A Novel Variant.The journal of gene medicine1 mentions
- 2026Prevalence and predictive factors of epilepsy in multiple sclerosis: A cross-sectional study from Saudi Arabia.Multiple sclerosis and related disorders1 mentions
- 2026Neuropsychiatric Sequelae of COVID-19: A Systematic Review of Acute and Prolonged Effects.CNS & neurological disorders drug targets1 mentions
- 2026Comparison of neuropsychological side effects between contemporary radiofrequency ablative neurosurgery for psychiatric disorders and conventional neurosurgical procedures: systematic review and meta-analysis.Journal of neurology, neurosurgery, and psychiatry1 mentions
- 2026Unlocking the Mysteries: Stroke-like Episodes in Sturge-Weber Syndrome.Clinical medicine & research1 mentions
- 2026Machine-learning methods for epilepsy diagnosis and therapeutic prevention: advances, setbacks, and opportunities.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology1 mentions
- 2026Correction: Determinants of Health-Related Quality of Life of Epilepsy Patients in Jeddah, Saudi Arabia.Cureus1 mentions
- 2026Adult case of 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency due to the p. Arg130Cys mutation of the HSD17B10 gene: case report.AME case reports1 mentions
- 2026Bacopa monnieri confers neuroprotection against middle cerebral artery occlusion (MCAO)-induced neurobehavioral and biochemical dysregulation in the frontal cortex and hippocampus of male Wistar rats.Journal of ethnopharmacology1 mentions
- 2026Attitudes and misconceptions surrounding epilepsy and first aid of seizures in the Eastern Mediterranean Region: a systematic review and meta-analysis.BMC public health1 mentions
- 2026Anticonvulsant Effects of Citronellal, Daidzin, and Phytol, Possibly Through GABAA Receptor and Voltage-Gated Sodium Channel Interaction Pathways: In Vivo and In Silico Studies.Brain and behavior1 mentions
- 2026Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.Annals of neurology1 mentions
- 2026Ocular microvascular alterations in epileptic patients.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2026Evidence of West Nile virus exposure in healthy donors and a clinical case in an immunocompromised child: emerging public health implications.Frontiers in medicine1 mentions
- 2026Prevalence of post-operative complications after craniotomy surgery, a tertiary hospital study, Saudi Arabia.Saudi journal of anaesthesia1 mentions
- 2026Seizure freedom on subtherapeutic levels of valproic acid.Journal of family medicine and primary care1 mentions
- 2026'No-No' head movement as a true epileptic phenomenon - A case series with SEEG and signal processing evaluation.Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology1 mentions
- 2026FGF12-Related Early-Onset Epileptic Encephalopathies: Therapeutic Response to Sodium Channel Blockers.American journal of medical genetics. Part A1 mentions
- 2026Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.HGG advances1 mentions
- 2026Subgaleal versus white matter reference for stereo-electroencephalography recordings: comparison of clinical impact and signal quality.Journal of neurosurgery1 mentions
- 2026Bridging development and disease: the potential of LncRNAs as biomarkers and therapeutics in pediatric neurological disorders.Pediatric research1 mentions
- 2026Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants.Molecular genetics and metabolism reports1 mentions
- 2026Overview of psychiatric and behavioral adverse effects of levetiracetam.Frontiers in neurology1 mentions
- 2026Burden of Sleep Disturbances and Sleep Apnea Risk Among Children with Epilepsy: A Case-Control Study.Journal of epidemiology and global health1 mentions
- 2026Value of anti-N-methyl D-aspartate receptor in children with encephalitis: a prospective observational study.Pediatric research1 mentions
- 2026EEG-based harmful brain activity classification using deep learning and feature fusion.Scientific reports1 mentions
- 2026Green-synthesized Matricaria chamomilla silver nanoparticles enhance anticonvulsant and neuroprotective effects through GABAergic and antioxidant pathways in an acute seizure rat model.RSC advances1 mentions
- 2026Exploring human GABA transporter 3 binders for epilepsy through quantum reactivity analysis, molecular dynamics, machine learning prediction, and network pharmacology.Journal of molecular modeling1 mentions
- 2026Design and Synthesis of Indole-Based Imidazo[1,2-a]pyridine Derivatives as Antiseizure Candidates: Evaluation in Chemically Induced Seizure Models and In Vitro Antioxidant Assays.ACS chemical neuroscience1 mentions