Disease: Benign familial infantile epilepsy
- <em>PRRT2</em> mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy
- <em>SCN2A</em>-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis
- A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure
- A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression
- A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome
- A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 channel
- A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome
- Activation of SGK1.1 Upregulates the M-current in the Presence of Epilepsy Mutations
- Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases
- Anti-seizure medication-induced developmental cell death in neonatal rats is unaltered by history of hypoxia
- Antibiotic use in endodontic treatment during pregnancy: A narrative review
- Applying the ILAE diagnostic criteria for Lennox-Gastaut syndrome in the real-world setting: A multicenter retrospective cohort study
- Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis
- Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios
- Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
- Background suppression of electrical activity is a potential biomarker of subsequent brain injury in a rat model of neonatal hypoxia-ischemia
- Cation leak: a common functional defect causing <em>HCN1</em> developmental and epileptic encephalopathy
- Characteristics of infantile convulsions and choreoathetosis syndrome caused by <em>PRRT2</em> mutation
- Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation
- Clinical and genetic analysis of a Chinese pedigree affected with benign familial neonatal convulsion
- Clinical and genetic analysis of benign familial infantile epilepsy caused by <em>PRRT2</em> gene variant
- Clinical and genetic analysis of benign familial infantile epilepsy caused by PRRT2 gene variant
- Clinical and genetic spectrum of SCN2A gene associated epilepsy and episodic ataxia
- Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases
- Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene
- Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery
- Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
- CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
- De Novo Variant in the <em>KCNJ9</em> Gene as a Possible Cause of Neonatal Seizures
- De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures
- Defining Dravet syndrome: An essential pre-requisite for precision medicine trials
- Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
- Distinct manifestations and potential mechanisms of seizures due to cortical versus white matter injury in children
- Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome
- Does long-term phenytoin have a place in Dravet syndrome?
- Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder
- Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial
- Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children
- Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy
- Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
- Expanding the genotype-phenotype spectrum in SCN8A-related disorders
- Expanding the genotype-phenotype spectrum in SCN8A-related disorders
- Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants
- Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions
- Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021
- Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletion
- Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
- Genotypes and clinical features of neonatal-onset genetic epilepsy in 141 patients
- Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
- Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome
- Heterozygous Deletion of Epilepsy Gene <em>KCNQ2</em> Has Negligible Effects on Learning and Memory
- Heterozygous Deletion of Epilepsy Gene KCNQ2 Has Negligible Effects on Learning and Memory
- Hyperekplexia: A Frequent Near Miss in Infants and Young Children
- Hyperekplexia: A Single-Center Experience
- iCCA: a new diagnostic approach for a new therapeutic management!
- ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy
- Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype
- Inherited <em>PURA</em> Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder
- International consensus on diagnosis and management of Dravet syndrome
- KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization
- KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review
- KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review
- Lightning progress in child neurology in the past 20 years
- MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense <em>KCNQ2</em> Gene Variants
- Mouse models of Kcnq2 dysfunction
- Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies
- Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype
- Myoclonic Epilepsy of Infancy
- Myoclonic Epilepsy of Infancy
- Neonatal Seizures: An Overview of Genetic Causes and Treatment Options
- Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset
- Neurodevelopmental Outcomes of Neonatal Rotavirus-Associated Leukoencephalopathy
- Novel KCNQ2 missense variant expands the genotype spectrum of DEE7
- Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature
- Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy
- Paroxystic dyskinesia
- Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions
- Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy
- Phenotypic Spectrum in a Family Sharing a Heterozygous <em>KCNQ3</em> Variant
- Potassium channelopathies associated with epilepsy-related syndromes and directions for therapeutic intervention
- Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits
- PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES)
- PRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy
- PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers
- Psychogenic seizures in a child with infantile convulsions and choreoathetosis
- Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies
- SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features
- SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis
- Simple Partial Seizure
- Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality
- Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40
- Temporal Changes in Cholangiocarcinoma Incidence and Mortality in the United States from 2001 to 2017
- The coincidence of benign non-familial infantile seizures type 2 with osteogenesis imperfecta type 1
- The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome
- The role of copy number variants in the genetic architecture of common familial epilepsies
- TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions
- Variant in <em>CACNA1G</em> as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo <em>SCN2A</em> Mutation
- Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation
- WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk