716 results match your criteria: "Benign Neonatal Convulsions"
BMC Pediatr
October 2021
Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, NO.399 Wanyuan Road, Minhang District, Shanghai, 201102, China.
Brain Sci
September 2021
Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", University of Messina, 98125 Messina, Italy.
Seizures are the most frequent neurological clinical symptoms of the central nervous system (CNS) during the neonatal period. Neonatal seizures may be ascribed to an acute event or symptomatic conditions determined by genetic, metabolic or structural causes, outlining the so-called 'Neonatal Epilepsies'. To date, three main groups of neonatal epilepsies are recognised during the neonatal period: benign familial neonatal epilepsy (BFNE), early myoclonic encephalopathy (EME) and 'Ohtahara syndrome' (OS).
View Article and Find Full Text PDFZhonghua Er Ke Za Zhi
September 2021
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Pediatr Int
January 2022
Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan.
Genes (Basel)
July 2021
Department of Regional Health Research, University of Southern Denmark, DK-5230 Odense, Denmark.
The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now increasingly available and have led to a significant higher diagnostic yield in early-onset epilepsies and enabled precision medicine approaches. These have been instrumental in providing insights into the pathophysiology of both early-onset benign and self-limited syndromes and devastating developmental and epileptic encephalopathies (DEEs).
View Article and Find Full Text PDFFront Neurol
May 2021
Pediatric Department, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Nav1.2 encoded by the gene is a brain-expressed voltage-gated sodium channel known to be associated with neurodevelopment disorders ranging from benign familial neonatal infantile seizures (BFIS) to developmental and epileptic encephalopathy (DEE) and autism spectrum disorder. Interestingly, status epilepticus during slow sleep (ESES), which aggravates cognitive impairment, has been found in -related epilepsy.
View Article and Find Full Text PDFJ Am Coll Radiol
May 2021
Specialty Chair, Riley Hospital for Children Indiana University, Indianapolis, Indiana.
In children, seizures represent an extremely heterogeneous group of medical conditions ranging from benign cases, such as a simple febrile seizure, to life-threatening situations, such as status epilepticus. Underlying causes of seizures also represent a wide range of pathologies from idiopathic cases, usually genetic, to a variety of acute and chronic intracranial or systemic abnormalities. This document discusses appropriate utilization of neuroimaging tests in a child with seizures.
View Article and Find Full Text PDFSemin Pediatr Neurol
April 2021
Department of Pediatrics, Baylor College of Medicine, San Antonio, TX; The Children's Hospital of San Antonio, San Antonio, TX.
The majority of neonatal seizures are related to common diagnoses, including hypoxic-ischemic encephalopathy and intraventricular hemorrhage. While relatively uncommon, neonatal epileptic encephalopathies represent an important group of neonatal seizure disorders that require immediate diagnosis and intervention. In this review, we provide a summary of the benign and severe neonatal epilepsy syndromes.
View Article and Find Full Text PDFDev Neurosci
January 2022
Department of Physiology and Neurobiology, University of Connecticut, Storrs, Connecticut, USA.
KCNQ2 and KCNQ3 pathogenic channel variants have been associated with a spectrum of developmentally regulated diseases that vary in age of onset, severity, and whether it is transient (i.e., benign familial neonatal seizures) or long-lasting (i.
View Article and Find Full Text PDFPediatr Neurol
May 2021
Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Background: Variants in KCNQ2 and KCNQ3 may cause benign neonatal familial seizures and early infantile epileptic encephalopathy. Previous reports suggest that in silico models cannot predict pathogenicity accurately enough for clinical use. Here we sought to establish a model to accurately predict the pathogenicity of KCNQ2 and KCNQ3 missense variants based on available in silico prediction models.
View Article and Find Full Text PDFAm J Med Genet A
June 2021
Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France.
J Pediatr Genet
June 2023
Neuropediatrics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Mutations in genes have been described in patients with epilepsy, finding a large phenotypic variability, from benign familial epilepsy to epileptic encephalopathy. To explain this variability, it was proposed the existence of dominant modifier alleles at one or more loci that contribute to determine the severity of the epilepsy phenotype. One example of modifier factor may be the gene, as proved in animal models.
View Article and Find Full Text PDFEpilepsia
March 2021
Paediatric Neurosciences Research Group, Royal Hospital for Children & Institute of Health & Wellbeing, University of Glasgow, Glasgow, UK.
Seizures are the most common neurological emergency in the neonatal period and in contrast to those in infancy and childhood, are often provoked seizures with an acute cause and may be electrographic-only. Hence, neonatal seizures may not fit easily into classification schemes for seizures and epilepsies primarily developed for older children and adults. A Neonatal Seizures Task Force was established by the International League Against Epilepsy (ILAE) to develop a modification of the 2017 ILAE Classification of Seizures and Epilepsies, relevant to neonates.
View Article and Find Full Text PDFEpileptic Disord
December 2020
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Benign familial infantile epilepsy (BFIE) is the most genetically heterogeneous phenotype among early-onset familial infantile epilepsies. It has an autosomal dominant inheritance pattern with incomplete penetrance. Although PRRT2 is the most mutated gene detected in families with BFIE, other mutations in KCNQ2, SCN2A, and GABRA6 genes have also been described.
View Article and Find Full Text PDFBMJ Case Rep
December 2020
Neonatology, Apollo Cradle, Motinagar, New Delhi, India.
Hyperekplexia is an exaggerated startle to external stimuli associated with a generalised increase in tone seen in neonates with both sporadic and genetic predisposition. This is an uncommon neurological entity that is misdiagnosed as seizure. A 28-days-old infant was admitted to us with characteristic intermittent generalised tonic spasm being treated as a seizure disorder.
View Article and Find Full Text PDFPediatr Neurol
February 2021
Division of Neurology, Children's Hospital Los Angeles, Los Angeles, California.
Epilepsia
December 2020
Department of Neurology, Division of Child Neurology, Stanford University School of Medicine, Palo Alto, CA, USA.
White matter undergoes rapid development in the neonatal period. Its structure during and after development is influenced by neuronal activity. Pathological neuronal activity, as in seizures, might alter white matter, which in turn may contribute to network dysfunction.
View Article and Find Full Text PDFChilds Nerv Syst
October 2020
Pediatric Neurosurgery, International Neuroscience Institute (INI), Hannover, Germany.
Neurocutaneous melanosis (NCM; MIM # 249400; ORPHA: 2481], first reported by the Bohemian pathologist Rokitansky in 1861, and now more precisely defined as neurocutaneous melanocytosis, is a rare, congenital syndrome characterised by the association of (1) congenital melanocytic nevi (CMN) of the skin with overlying hypertrichosis, presenting as (a) large (LCMN) or giant and/or multiple (MCMN) melanocytic lesions (or both; sometimes associated with smaller "satellite" nevi) or (b) as proliferative melanocytic nodules; and (2) melanocytosis (with infiltration) of the brain parenchyma and/or leptomeninges. CMN of the skin and leptomeningeal/nervous system infiltration are usually benign, more rarely may progress to melanoma or non-malignant melanosis of the brain. Approximately 12% of individuals with LCMN will develop NCM: wide extension and/or dorsal axial distribution of LCMN increases the risk of NCM.
View Article and Find Full Text PDFFront Physiol
September 2020
Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, United States.
Pathogenic variants in and , paralogous genes encoding Kv7.2 and Kv7.3 voltage-gated K channel subunits, are responsible for early-onset developmental/epileptic disorders characterized by heterogeneous clinical phenotypes ranging from benign familial neonatal epilepsy (BFNE) to early-onset developmental and epileptic encephalopathy (DEE).
View Article and Find Full Text PDFBrain Dev
February 2021
Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address:
Sci Rep
August 2020
Institute of Medicine, School of Medicine, Chung Shan Medical University, #110, Section 1, Chien-Kuo North Road, Taichung, 402, Taiwan.
Pediatric epilepsy caused by KCNQ2 mutations can manifest benign familial neonatal convulsions (BFNC) to neonatal-onset epileptic encephalopathy (EE). Patients might manifest mild to profound neurodevelopmental disabilities. We analysed c.
View Article and Find Full Text PDFEpilepsy Behav
October 2020
Services d'explorations fonctionnelles, Centre de médecine du sommeil, Hôpital Antoine-Béclère, AP-HP, Clamart, France; Service de pédiatrie, Centre hospitalier intercommunal André Grégoire, Montreuil, France. Electronic address:
Introduction: Sodium voltage-gated channel alpha subunit 2 (SCN2A) gene encodes the Nav1.2 subunit of voltage-gated sodium channel in pyramidal neurons. SCN2A gain-of-function mutations are identified more and more often with gene panels and whole exome sequencing.
View Article and Find Full Text PDFBehav Neurol
August 2021
Department of Biology, School of Basic Medicine, Jiamusi University, Jiamusi City, Heilongjiang Province, 154007, China.
PRRT2 mutations are the major causative agent of paroxysmal kinesigenic dyskinesia with infantile convulsion (PKD/IC). The study is aimed at screening PRRT2 gene mutations in patients who suffered from PKD/IC in Chinese population. Thirteen Chinese patients with PKD/IC were screened randomly for coding exons of the PRRT2 gene mutation along with 50 ethnically coordinated control people.
View Article and Find Full Text PDFPediatrics
June 2020
Department of Neurosciences, School of Medicine, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, California;
Background And Objectives: There are no US Food and Drug Administration-approved therapies for neonatal seizures. Phenobarbital and phenytoin frequently fail to control seizures. There are concerns about the safety of seizure medications in the developing brain.
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