Disease: Convulsions- benign familial infantile- 1
- <em>SCN2A</em>-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis
- A Case of Neonatal Seizures With an Unusual Electroclinical Pattern
- 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 de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy
- A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy
- A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 channel
- A Novel Kv7.3 Variant in the Voltage-Sensing S(4) Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by beta-Hydroxybutyrate
- A Novel Kv7.3 Variant in the Voltage-Sensing S<sub>4</sub> Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and <em>in vitro</em> Rescue by β-Hydroxybutyrate
- A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion
- Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in <em>GLRB</em> gene
- Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene
- ACR Appropriateness Criteria® Seizures-Child
- Activation of SGK1.1 Upregulates the M-current in the Presence of Epilepsy Mutations
- 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
- Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios
- Background suppression of electrical activity is a potential biomarker of subsequent brain injury in a rat model of neonatal hypoxia-ischemia
- Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?
- Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy
- Clinical and genetic analysis of a Chinese pedigree affected with benign familial neonatal convulsion
- Clinical and genetic spectrum of SCN2A gene associated epilepsy and episodic ataxia
- Clinical characteristics of KCNQ2 encephalopathy
- CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
- Current Overview of Neonatal Convulsions
- 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
- Differential Functional Changes of Nav1.2 Channel Causing <em>SCN2A</em>-Related Epilepsy and Status Epilepticus During Slow Sleep
- Differential Functional Changes of Nav1.2 Channel Causing SCN2A-Related Epilepsy and Status Epilepticus During Slow Sleep
- 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
- Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder
- EEG Monitoring of the Epileptic Newborn
- Electroencephalography in neonatal epilepsies
- 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
- Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions
- Flexible Stoichiometry: Implications for KCNQ2- and KCNQ3-Associated Neurodevelopmental Disorders
- Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021
- Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
- Genotypes and clinical features of neonatal-onset genetic epilepsy in 141 patients
- Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes
- 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
- Heterozygous loss of epilepsy gene KCNQ2 alters social, repetitive and exploratory behaviors
- 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
- In Silico Predictions of KCNQ Variant Pathogenicity in Epilepsy
- Infantile Spasms Associated With a Pathogenic PRRT2 Variant
- Inter-rater reliability of amplitude-integrated EEG for the detection of neonatal seizures
- KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization
- KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series
- 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
- Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial
- MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense <em>KCNQ2</em> Gene Variants
- Mouse models of Kcnq2 dysfunction
- 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 Epileptic Encephalopathies
- Neonatal genetic epilepsies display convergent white matter microstructural abnormalities
- Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence
- Neonatal Seizures: An Overview of Genetic Causes and Treatment Options
- Neurocutaneous melanocytosis (melanosis)
- 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 and de novo point and large microdeletion mutation in PRRT2-related epilepsy
- Novel KCNQ2 missense variant expands the genotype spectrum of DEE7
- Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report
- Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature
- Paroxysmal non-epileptic events in infancy: five cases with typical features
- Paroxystic dyskinesia
- Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy
- 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 and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond
- Phenotypic Spectrum in a Family Sharing a Heterozygous <em>KCNQ3</em> Variant
- Potassium channelopathies associated with epilepsy-related syndromes and directions for therapeutic intervention
- PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES)
- PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia
- 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
- Risk factors for neonatal seizures: A case-control study in the province of Parma, Italy
- 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
- Temporal Changes in Cholangiocarcinoma Incidence and Mortality in the United States from 2001 to 2017
- The clinical and genetic spectrum in infants with (an) unprovoked cluster(s) of focal seizures
- The coincidence of benign non-familial infantile seizures type 2 with osteogenesis imperfecta type 1
- The Function of Potassium Channel in <em>KCNQ2</em> G271V Mutants of Benign Familial Neonatal Convulsions
- The Function of Potassium Channel in KCNQ2 G271V Mutants of Benign Familial Neonatal Convulsions
- The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures
- The phenotypic spectrum of SCN2A-related epilepsy
- 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