716 results match your criteria: "Benign Neonatal Convulsions"
A Case of Osteitis Fibrosa Cystica of the Mandible: A Rare Presentation during Pregnancy due to Mutation.
J ASEAN Fed Endocr Soc
December 2024
Topiwala National Medical College and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, India.
Article Synopsis
[Neonatal epileptics syndromes].
Medicina (B Aires)
September 2024
Servicio de Neuropediatría, Hospital Militar Central, Universidad Militar Nueva Granada, Bogotá, Colombia. E-mail:
Article Synopsis
- - Neonatal epileptic syndromes, part of genetic and metabolic epilepsies, are significant for early diagnosis and treatment despite being less common causes of neonatal seizures.
- - These syndromes are categorized into self-limited neonatal syndromes, with seizures resolving in early life, and early infantile epileptic and developmental encephalopathies (EIDEE), which are typically resistant to treatment and impact development.
- - The review focuses on describing the electroclinical characteristics, key genes involved, diagnostic methods, and recommended treatments for these neonatal epileptic syndromes.
Hyperekplexia: A Single-Center Experience.
J Child Neurol
June 2024
Department of Pediatric Neurology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Background: Hyperekplexia is a rare neurogenetic disorder that is classically characterized by an exaggerated startle response to sudden unexpected stimuli. This study aimed to determine clinical and genetic characteristics of our patients with hyperekplexia.
Methods: The age of onset and diagnosis, familial and perinatal history, clinical course, complications, metabolic screening tests, magnetic resonance imaging (MRI), medications, neuropsychometric evaluations, and gene mutations of patients diagnosed with hyperekplexia were reviewed retrospectively.
Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios.
Am J Med Genet A
November 2024
Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy.
Article Synopsis
- Large studies and specific electrophysiology techniques have helped identify various SCN2A-epilepsy phenotypes, their genetic connections, and their reactions to sodium channel blockers.
- One notable presentation of SCN2A variants is benign familial neonatal-infantile seizures (BFNIS), which typically occur within the first 23 months of life and often resolve within two years, sometimes with treatment.
- A recent case highlights a woman, originally diagnosed with BFNIS in infancy, who experienced additional seizures over 40 years later, suggesting SCN2A-related seizures may have implications in adulthood.
Novel KCNQ2 missense variant expands the genotype spectrum of DEE7.
Neurol Sci
November 2024
Department of Neurology, the Affiliated Nanhua Hospital, Hengyang Medical School, University of South China, Hengyang, China.
Article Synopsis
- KCNQ2 is a potassium channel gene linked to epilepsy and autism, with many variants that can be misinterpreted regarding their harmful effects.
- This study used genetic sequencing and computational models to identify a new missense variant (c.1007C > A) in the KCNQ2 gene, which leads to a change in amino acids that may impair channel function.
- The functional impact was validated in a fruit fly model, where knocking out KCNQ caused seizures and other behavioral issues, but these were rescued by reintroducing the normal human KCNQ2 gene.
KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.
Epilepsy Behav
July 2024
Division of Pediatric Neurology, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan; Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung, Taiwan. Electronic address:
Article Synopsis
- The KCNQ2 gene mutation leads to neonatal seizures, particularly a specific form known as self-limited familial neonatal epilepsy (SLFNE), which is distinct from other severe epilepsy forms.
- A case study of a newborn with the p.Arg448Ter mutation showed behavioral issues and seizures in the first few months, but normal development by age three.
- Functional studies revealed that the mutated gene had impaired function on its own, but when paired with other gene variants, it approached normal activity, suggesting potential treatment benefits with certain drugs.
MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense Gene Variants.
Int J Mol Sci
March 2024
Instituto Biofisika, CSIC-UPV/EHU, 48940 Leioa, Spain.
Article Synopsis
- Despite advancements in genomic data and analysis, predicting disease severity is still challenging without clinical descriptors.
- The study focuses on the K7.2 potassium channel gene linked to epilepsy and developmental delays, introducing a new machine learning approach that combines genomic data with a Variant Frequency Index (VFI).
- The resulting ensemble model, MLe-KCNQ2, demonstrates high accuracy in classifying variants and offers valuable insights for clinical counseling, enhancing decision making for KCNQ2-related pathologies.
Anti-seizure medication-induced developmental cell death in neonatal rats is unaltered by history of hypoxia.
Epilepsy Res
March 2024
Department of Pharmacology & Physiology, Georgetown University, Washington, DC, USA; Department of Neuroscience, Georgetown University, Washington, DC, USA; Interdisciplinary Program in Neuroscience, Georgetown University, Washington, DC, USA. Electronic address:
Article Synopsis
- Many anti-seizure medications (ASMs) like phenobarbital cause neuronal cell death in young rodents, while levetiracetam does not, but the effects in animals with existing brain injury and across different sexes are less understood.
- In a study, rat pups were treated with either phenobarbital or levetiracetam after being exposed to normal oxygen levels or low oxygen conditions, and their brains were analyzed for cell death markers.
- Results showed that phenobarbital increased cell death across various brain regions, and females exhibited higher levels of cell death compared to males, regardless of treatment or hypoxia, indicating the need to consider sex differences in ASM studies.
A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression.
Case Rep Pediatr
February 2024
Research Center for Child Health, Department of Child Health Care, Key Laboratory of Birth Regulation and Control Technology of National Health Commission of China, Shandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao University, Jinan, China.
Article Synopsis
- Benign familial infantile seizure (BFIS) is an autosomal dominant epilepsy that usually has a good outcome but is linked to mutations on chromosome 16p11.2.
- A rare case of a girl diagnosed with BFIS showed normal development until 15 months, after which she experienced significant autistic regression due to a specific genetic mutation (c.649dupC).
- The presence of mutations in the same gene is also connected to other disorders, suggesting that not all BFIS cases may have a straightforward benign prognosis, highlighting the need for ongoing monitoring of patients.
Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.
Int J Mol Sci
December 2023
Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea.
Article Synopsis
- 16p11.2 copy number variations (CNVs) are common genomic disorders, and the microdeletion in this region shows a wide range of symptoms and developmental outcomes across individuals.
- An analysis involving ten patients from six families identified various breakpoints within the microdeletion, with most patients experiencing developmental delays, intellectual disabilities, and other health issues like hypotonia and obesity.
- The study highlights the significant variability in clinical phenotypes even among individuals with identical 16p11.2 microdeletions, complicating diagnosis and understanding of the condition.
Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.
Seizure
February 2024
Department of Neurology, Sydney Children's Hospital Network, Randwick, Australia; School of Clinical Medicine, UNSW Medicine & Health, Randwick Clinical Campus, Discipline of Paediatrics, UNSW Sydney, Australia.
Article Synopsis
- The study aimed to investigate seizure recurrence, developmental disabilities, and risk factors in families affected by self-limited familial neonatal and/or infantile epilepsy (SeLFE).
- Researchers analyzed data from 15 families in Sydney, finding a high genetic diagnosis rate (93%) among participants, with 73 individuals affected by seizures, including both children and adults.
- The results revealed a 20% risk of recurrent seizures and identified predictors such as a high number of seizures and prolonged treatment; developmental delays were noted in some children, indicating the importance of ongoing developmental monitoring.
Distinct manifestations and potential mechanisms of seizures due to cortical versus white matter injury in children.
Epilepsy Res
January 2024
Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Victoria, Australia; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia.
Purpose: To study seizure manifestations and outcomes in children with cortical versus white matter injury, differences potentially explaining variability of epilepsy in children with cerebral palsy.
Methods: In this population-based retrospective cohort study, MRIs of children with cerebral palsy due to ischemia or haemorrhage were classified according to presence or absence of cortical injury. MRI findings were then correlated with history of neonatal seizures, seizures during childhood, epilepsy syndromes, and seizure outcomes.
Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021.
Clin Neurol Neurosurg
November 2023
Regional Epilepsy Center, Operative Unit of Childhood and Adolescent Neuropsychiatry - ASST Spedali Civili di Brescia, Brescia, Italy.
Article Synopsis
- SCN2A gene mutations can lead to conditions like epilepsy, developmental delays, and autism, with previous studies in Denmark showing a prevalence of about 0.0012% in live births.
- A study in Brescia, Italy, from 2002 to 2021 found a higher frequency of SCN2A-related disorders at 0.0047%, indicating a more significant presence of the pathogenic variant compared to Denmark's data.
- Results showed that the incidence of the SCN2A variant in Brescia was approximately three to four times higher than in the Danish population, suggesting a need for further research on this genetic variant in Italy.
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
J Inherit Metab Dis
November 2023
Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain.
Article Synopsis
- A study was conducted to address the challenges in identifying the effects of variants of uncertain significance (VUS) in genetic diseases, particularly inherited metabolic disorders (IMDs).
- Researchers developed a CRISPR/Cas9-based method to create knock-in cell models that mimic the effects of specific genetic variants to better understand their functional impact.
- The approach successfully distinguished pathogenic variants from benign ones, offering a potential alternative to more invasive diagnostic methods like biopsies, and may be applicable to other genetic conditions beyond IMDs.
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
Lancet Neurol
September 2023
Department of Neurology, Great Ormond Street Hospital, London, UK; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK. Electronic address:
Article Synopsis
- Most neonatal and infantile-onset epilepsies are thought to have genetic causes, and early genetic testing could help improve treatment and outcomes for affected infants.
- The Gene-STEPS study involved four pediatric centers across Australia, Canada, the UK, and the USA, where researchers collected blood samples and clinical data from infants under 12 months old who had new-onset epilepsy or complex febrile seizures.
- Out of 100 enrolled infants, 43 (43%) received genetic diagnoses through rapid genome sequencing, showing the effectiveness of this method in identifying underlying genetic factors.
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature.
J Matern Fetal Neonatal Med
December 2023
Unit of Fetal Medicine and Prenatal Diagnosis, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo," Trieste, Italy.
Article Synopsis
Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy.
Epileptic Disord
August 2023
Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.
Objective: Pathogenic PRRT2 variants cause self-limited (familial) infantile epilepsy (SeLIE), which is responsive to sodium channel blocking antiseizure medications. The interictal EEG is typically normal. We describe a cohort of infants with PRRT2-related SeLIE with striking peri-ictal EEG abnormalities.
View Article and Find Full Text PDFMutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
Cereb Cortex
June 2023
Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, NeuroCure Clinical Research Center, 10117 Berlin, Germany.
Article Synopsis
KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Neuropediatrics
October 2023
Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, AOU "Policlinico", PO "G. Rodolico", Catania, Italy.
Background: Autosomal dominant mutations of the gene can cause two epileptic disorders: benign familial neonatal seizures (BFNS) and developmental epileptic encephalopathy (DEE). This systematic review aims to identify the best reported therapy for these patients, relating to phenotype, neurodevelopmental outcome, and an eventual correlation between phenotype and genotype.
Methods: We searched on PubMed using the search terms "" AND "therapy" and "" AND "treatment"; we found 304 articles.
ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy.
Epileptic Disord
August 2023
Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Article Synopsis
Purpose: Heterozygous variants in PRRT2 are mostly associated with benign phenotypes, being the major genetic cause of benign familial infantile seizures (BFIS), as well as in paroxysmal disorders. We report two children from unrelated families with BFIS that evolved to encephalopathy related to status epilepticus during sleep (ESES).
Methods And Results: Two probands presented with focal motor seizures at 3 months of age, with a limited course.
De Novo Variant in the Gene as a Possible Cause of Neonatal Seizures.
Genes (Basel)
January 2023
Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
Background: The reduction in next-generation sequencing (NGS) costs allows for using this method for newborn screening for monogenic diseases (MDs). In this report, we describe a clinical case of a newborn participating in the EXAMEN project (ClinicalTrials.gov Identifier: NCT05325749).
View Article and Find Full Text PDFPRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers.
Epilepsia Open
June 2023
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Article Synopsis
Laparoscopic versus open liver resections for intrahepatic cholangiocarcinoma and gallbladder cancer: the Mayo clinic experience.
HPB (Oxford)
March 2023
Department of Surgery, Division of Hepatobiliary and Pancreas Surgery, Mayo Clinic, Rochester, MN, USA. Electronic address:
Background: Data regarding laparoscopic liver resections(LLRs) for Gallbladder cancer(GBC) and Intrahepatic Cholangiocarcinoma(iCCA) are sparse. This study compared LLRs with open liver resections(OLRs) in a high-volume center.
Methods: Data of patients who underwent LLR or OLR for GBC or iCCA at Mayo-Clinic between 01/2016 and 04/2021 were retrospectively compared.