Research By Disease – CheckOrphan

Disease: Benign familial infantile epilepsy

PRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy
SCN2A-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 HCN1 developmental and epileptic encephalopathy
Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 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 PRRT2 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 KCNJ9 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 KCNQ2 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 PURA 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 KCNQ2 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 KCNQ3 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 CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A 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