Disease: Epilepsy- partial- familial
- <em>AFF2</em> Is Associated With X-Linked Partial (Focal) Epilepsy With Antecedent Febrile Seizures
- "Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene"
- 4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in <em>SLC6A1</em> patient variant-bearing cell and mouse models
- A - 28 Serial Evaluations of an Older Adult with Epilepsy and Incidental Findings of Early-Onset Alzheimer's Disease: a Case Study
- A comparison of comorbid headache between patients with temporal lobe epilepsy and juvenile myoclonic epilepsy
- A de novo pathogenic variant in MICAL-1 causes epilepsy with auditory features
- Adult Phenotype of <em>SYNGAP1</em>-DEE
- AFF2 Is Associated With X-Linked Partial (Focal) Epilepsy With Antecedent Febrile Seizures
- Associations between testing and treatment pathways in lesional temporal or extratemporal epilepsy: A census survey of NAEC center directors
- Autosomal dominant lateral temporal epilepsy in a family exhibiting a rare heterozygous mutation and deletion in the leucine-rich glioma inactivated 1 gene
- Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants
- Bipolar I and bipolar II subtypes in older age: Results from the Global Aging and Geriatric Experiments in Bipolar Disorder (GAGE-BD) project
- Brain somatic mosaicism in epilepsy: Bringing results back to the clinic
- Calgary score and modified calgary score in the differential diagnosis between syncope and genetic generalized epilepsy in children
- Changing Agendas on Sleep, Treatment and Learning in Epilepsy (CASTLE) Sleep-E: a protocol for a randomised controlled trial comparing an online behavioural sleep intervention with standard care in children with Rolandic epilepsy
- Characterisation of NLRP3 pathway-related neuroinflammation in temporal lobe epilepsy
- Clinical and genetic features of GATOR1 complex-associated epilepsy
- Clinical and molecular characteristics of a novel rare <em>de novo</em> variant in <em>PPP2CA</em> in a patient with a developmental disorder, autism, and epilepsy
- Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy
- Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation
- Clinical characteristics of MRI-negative temporal lobe epilepsy
- Clinical phenotype and genotype of NPRL2-related epilepsy: Four cases reports and literature review
- Clinical Reasoning: Pediatric Seizures of Unknown Cause
- Cognitive development in children with new-onset Rolandic epilepsy and Rolandic discharges without seizures: Focusing on intelligence, visual perception, working memory and the role of parents' education
- Complete Corpus Callosotomy for Refractory Epilepsy in Children
- Computational completion of the Aurora interaction region of N-Myc in the Aurora a kinase complex
- Demographic and Clinical Predictors of Drug Response in Epileptic Children in Jeddah
- DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature
- DEPDC5-related epilepsy: A comprehensive review
- Differential contributions of performance-based and parental reports of executive functioning on memory in pediatric focal and generalized epilepsies
- Early treatment with rifaximin during epileptogenesis reverses gut alterations and reduces seizure duration in a mouse model of acquired epilepsy
- Electroencephalography, Magnetic Resonance Imaging and Response to Treatment in Children with Focal Seizures A Prospective Cohort Study
- Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother
- Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene
- Expression profile of synaptic vesicle glycoprotein 2A, B, and C paralogues in temporal neocortex tissue from patients with temporal lobe epilepsy (TLE)
- Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture
- Familial occurrence of seizure disorders across MRI defined structural focal epilepsy etiology
- Fisetin-loaded chitosan nanoparticles ameliorate pilocarpine-induced temporal lobe epilepsy and associated neurobehavioral alterations in mice: Role of ROS/TNF-alpha-NLRP3 inflammasomes pathway
- From Alpha-Thalassemia Trait to NPRL3-Related Epilepsy: A Genomic Diagnostic Odyssey
- Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy
- Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication
- Gene expression profile suggests different mechanisms underlying sporadic and familial mesial temporal lobe epilepsy
- Generalized onset seizures with focal evolution (GOFE) - a largely unknown ictal variation in genetic generalized epilepsies
- Generation of a human iPSC line CIPi003-A from a patient with focal epilepsy harboring a heterozygous mutation in DEPDC5 gene
- Genetic heterogeneity in corpus callosum agenesis
- Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
- GL-II-73, a Positive Allosteric Modulator of alpha5GABA(A) Receptors, Reverses Dopamine System Dysfunction Associated with Pilocarpine-Induced Temporal Lobe Epilepsy
- GL-II-73, a Positive Allosteric Modulator of α5GABA<sub>A</sub> Receptors, Reverses Dopamine System Dysfunction Associated with Pilocarpine-Induced Temporal Lobe Epilepsy
- Glymphatic system dysfunction in patients with occipital lobe epilepsy
- GPR120 modulates epileptic seizure and neuroinflammation mediated by NLRP3 inflammasome
- H - 24 The Role of Bilingual Neuropsychologists in Presurgical Epilepsy Evaluations: La Evaluación Comprensiva en Español
- Highly dynamic inflammatory and excitability transcriptional profiles in hippocampal CA1 following status epilepticus
- Identification and clinical characteristics of a novel missense ADGRG1 variant in bilateral Frontoparietal Polymicrogyria: The electroclinical change from infancy to adulthood after Callosotomy in three siblings
- Inhibitory synapse dysfunction and epileptic susceptibility associated with KIF2A deletion in cortical interneurons
- International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)
- KIF1A gene-associated neurological disease: the correlation between genotype and phenotype
- Landscape of childhood epilepsies - A multi-ethnic population-based study
- Lesion Extent Negatively Impacts Intellectual Skills in Pediatric Focal Epilepsy
- Management of Autoimmune Encephalitis in a 7-Year-Old Child With CTLA-4 Haploinsufficiency and AMPA Receptor Antibodies: A Case Report
- Management of patients with epilepsy and Intellectual disabilities in group homes vs. Family Homes: Insights into polypharmacy and seizure characteristics
- Mono and biallelic variants in <em>HCN2</em> cause severe neurodevelopmental disorders
- Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype
- Novel Genetic and Phenotypic Expansion in <em>GOSR2</em>-Related Progressive Myoclonus Epilepsy
- Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
- Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate
- Parent and Provider Differences in Ratings of Mental Health and Neurodevelopmental Concerns in Children with Neurologic Disorders
- Pearls & Oy-sters: Harnessing New Diagnostic and Therapeutic Approaches to Treat a Patient With Genetic Drug-Resistant Focal Epilepsy
- Pearls & Oy-sters: Harnessing New Diagnostic and Therapeutic Approaches to Treat a Patient With Genetic Drug-Resistant Focal Epilepsy
- Peri-ictal Water Drinking in an Omani Patient with Bilateral Mesial Temporal Sclerosis
- Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review
- Potassium channelopathies associated with epilepsy-related syndromes and directions for therapeutic intervention
- PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers
- Psychosis of Epilepsy: A 10-Year Iranian Clinical Survey
- RAS pathway: The new frontier of brain mosaicism in epilepsy
- Reading epilepsy today: A scoping review and meta-analysis of reports of the last three decades
- Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review
- Relapse After Drug Withdrawal in Patients with Epilepsy After Two Years of Seizure-Free: A Cohort Study
- Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
- SCAF4 variants associated with focal epilepsy accompanied by multisystem disorders
- Shared functional network abnormality in patients with temporal lobe epilepsy and their siblings
- Structural Neuroimaging in Adults and Adolescents With Newly Diagnosed Focal Epilepsy: The Human Epilepsy Project
- Sudden Unexpected Death in Epilepsy and Respiratory Defects in a Mouse Model of DEPDC5-Related Epilepsy
- Symptom Severity Mixity in Older-Age Bipolar Disorder: Analyses From the Global Aging and Geriatric Experiments in Bipolar Disorder Database (GAGE-BD)
- Teratogenesis, Perinatal, and Neurodevelopmental Outcomes After In Utero Exposure to Antiseizure Medication: Practice Guideline From the AAN, AES, and SMFM
- The "make or break" impact of family dynamics on psychological outcomes in focal epilepsy
- The Antiseizure Drug Perampanel Is a Subunit-Selective Negative Allosteric Modulator of Kainate Receptors
- The beneficial effect of medical clowns on performance of EEG in young children: a randomized controlled study
- The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant
- The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia
- The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival
- The Prevalence of Active Epilepsy in the Kingdom of Saudi Arabia: A Cross-Sectional Study
- The role of copy number variants in the genetic architecture of common familial epilepsies
- Trafficking and Gating Cooperation Between Deficient Na<sub>v</sub>1.5-mutant Channels to Rescue I<sub>Na</sub>
- Upregulation of SLITRK5 in patients with epilepsy and in a rat model
- Variants in <em>BSN</em> gene associated with epilepsy with favourable outcome
- Variants in BSN gene associated with epilepsy with favourable outcome
- What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report
- Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus
- Why did my seizures start now? Influences of lesion connectivity and genetic etiology on age at seizure onset in focal epilepsy
- γ-Aminobutyric acid transporter and GABA<sub>A</sub> receptor mechanisms in <em>Slc6a1<sup>+/A288V</sup></em> and <em>Slc6a1<sup>+/S295L</sup></em> mice associated with developmental and epilepti