Research By Disease – CheckOrphan

Disease: Convulsions- benign familial infantile- 1

SCN2A-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 S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro 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 GLRB 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 KCNJ9 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 SCN2A-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 KCNQ2 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 KCNQ2 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 KCNQ3 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 KCNQ2 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 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