651 results match your criteria Benign Neonatal Convulsions

ACR Appropriateness Criteria® Seizures-Child.

J Am Coll Radiol 2021 May;18(5S):S199-S211

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. Read More

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Neonatal Epileptic Encephalopathies.

Semin Pediatr Neurol 2021 Apr 4;37:100880. Epub 2021 Mar 4.

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. Read More

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Flexible Stoichiometry: Implications for KCNQ2- and KCNQ3-Associated Neurodevelopmental Disorders.

Dev Neurosci 2021 Apr 1:1-10. Epub 2021 Apr 1.

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. Read More

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In Silico Predictions of KCNQ Variant Pathogenicity in Epilepsy.

Pediatr Neurol 2021 May 27;118:48-54. Epub 2021 Jan 27.

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. Read More

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Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.

Am J Med Genet A 2021 Mar 23. Epub 2021 Mar 23.

Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France.

High-throughput sequencing (HTS) improved the molecular diagnosis in individuals with intellectual deficiency (ID) and helped to broaden the phenotype of previously known disease-causing genes. We report herein four unrelated patients with isolated ID, carriers of a likely pathogenic variant in KCNQ2, a gene usually implicated in benign familial neonatal seizures (BFNS) or early onset epileptic encephalopathy (EOEE). Patients were diagnosed by targeted HTS or exome sequencing. Read More

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Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in gene.

BMJ Case Rep 2020 Dec 15;13(12). Epub 2020 Dec 15.

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. Read More

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December 2020

Neonatal genetic epilepsies display convergent white matter microstructural abnormalities.

Epilepsia 2020 12 23;61(12):e192-e197. Epub 2020 Oct 23.

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. Read More

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December 2020

Neurocutaneous melanocytosis (melanosis).

Childs Nerv Syst 2020 10 13;36(10):2571-2596. Epub 2020 Oct 13.

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. Read More

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October 2020

A Novel Kv7.3 Variant in the Voltage-Sensing S Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and Rescue by β-Hydroxybutyrate.

Front Physiol 2020 4;11:1040. Epub 2020 Sep 4.

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). Read More

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September 2020

Clinical characteristics of KCNQ2 encephalopathy.

Brain Dev 2021 Feb 8;43(2):244-250. Epub 2020 Sep 8.

Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address:

Purpose: KCNQ2 mutations are associated with benign familial neonatal epilepsy (BFNE) or developmental and epileptic encephalopathy (DEE). In this study, we aimed to delineate the phenotype of KCNQ2 encephalopathy and evaluate the treatment response.

Methods: Thirteen patients of KCNQ2 encephalopathy were included in the study. Read More

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February 2021

Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes.

Sci Rep 2020 08 7;10(1):13375. Epub 2020 Aug 7.

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. Read More

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Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.

Epilepsy Behav 2020 10 27;111:107187. Epub 2020 Jun 27.

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. Read More

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October 2020

Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial.

Pediatrics 2020 06 8;145(6). Epub 2020 May 8.

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. Read More

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Risk factors for neonatal seizures: A case-control study in the province of Parma, Italy.

Epilepsy Behav 2020 06 15;107:107075. Epub 2020 Apr 15.

Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milano, Italy. Electronic address:

Purpose: The present study evaluated the risk factors for electroencephalographic (EEG)-confirmed seizures during the whole neonatal period in preterm and term neonates born in the province of Parma between January 2009 and December 2014.

Methods: We selected as cases the infants that presented EEG-confirmed neonatal seizures (NS). Two population controls for each case were matched by gestational age (GA), sex, hospital, and period of birth. Read More

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EEG Monitoring of the Epileptic Newborn.

Curr Neurol Neurosci Rep 2020 03 12;20(4). Epub 2020 Mar 12.

Child Neurology Unit, Presidio Ospedaliero Provinciale Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, viale Risorgimento 80, 42123, Reggio Emilia, Italy.

Purpose Of Review: Although differentiating neonatal-onset epilepsies from acute symptomatic neonatal seizures has been increasingly recognized as crucial, existing guidelines, and recommendations on EEG monitoring are mainly based on acute symptomatic seizures, especially secondary to hypoxic-ischemic encephalopathy. We aimed to narratively review current knowledge on neonatal-onset epilepsies of genetic, metabolic, and structural non-acquired origin, with special emphasis on EEG features and monitoring.

Recent Findings: A wide range of rare conditions are increasingly described, reducing undiagnosed cases. Read More

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A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy.

Turk J Pediatr 2019 ;61(2):279-281

2nd Department of Pediatrics, 'P&A Kyriakou' Children's Hospital, Athens University, Athens.

Benetou C, Papailiou S, Maritsi D, Anagnostopoulou K, Kontos H, Vartzelis G. A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy. Turk J Pediatr 2019; 61: 279-281. Read More

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The phenotypic spectrum of SCN2A-related epilepsy.

Eur J Paediatr Neurol 2020 Jan 12;24:117-122. Epub 2019 Dec 12.

Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin 1, Ireland; School of Medicine and Medical Sciences, University College Dublin, Dublin 4, Ireland. Electronic address:

Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathies, benign familial neonatal-infantile seizures, episodic ataxia, and autism spectrum disorder and intellectual disability with and without seizures. To date, more than 300 patients with SCN2A variants have been published, the majority presenting with epilepsy. Large cohort studies and variant-specific electrophysiology, have enabled the delineation of different SCN2A-epilepsy phenotypes, phenotype-genotype correlations, prediction of pharmacosensitivity to sodium channel blockers and long-term prognostication for clinicians and families. Read More

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January 2020

Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.

Epilepsia 2019 12;60 Suppl 3:S59-S67

Paediatric Neurosciences Research Group, Royal Hospital for Children & School of Medicine, University of Glasgow, Glasgow, UK.

Pathogenic variants in the SCN2A gene are associated with a variety of neurodevelopmental phenotypes, defined in recent years through multicenter collaboration. Phenotypes include benign (self-limited) neonatal and infantile epilepsy and more severe developmental and epileptic encephalopathies also presenting in early infancy. There is increasing evidence that an important phenotype linked to the gene is autism and intellectual disability without epilepsy or with rare seizures in later childhood. Read More

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December 2019

The clinical and genetic spectrum in infants with (an) unprovoked cluster(s) of focal seizures.

Eur J Paediatr Neurol 2020 Jan 13;24:148-153. Epub 2019 Dec 13.

Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Wilrijkstraat 10, 2610, Edegem, Antwerp, Belgium. Electronic address:

Background: Self-limited (familial) infantile epilepsy (S(F)IE), formerly known as benign (familial) infantile convulsions (B(F)IC), is an infantile cluster epilepsy with in rule a complete recovery. This form of epilepsy is most often caused by variations in the PRRT2 gene (OMIM #605751).

Aim: To describe the clinical and genetic spectrum of sudden onset clusters of focal seizures in infancy. Read More

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January 2020

Paroxysmal non-epileptic events in infancy: five cases with typical features.

Epileptic Disord 2019 Oct;21(5):458-462

Department of Paediatrics, Medical School, University of Pecs, Hungary.

The differential diagnosis of paroxysmal non-epileptic events in early childhood is one of the most challenging tasks in paediatrics, and may be difficult even for specialized child neurologists. Parents are usually concerned by every unusual movement of their children and consult paediatric general practitioners immediately. We investigated five infants/toddlers (aged 1-30 months) referred by their general practitioners with a suspicion of epilepsy. Read More

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October 2019

A KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data.

Front Pediatr 2019 6;7:348. Epub 2019 Sep 6.

Division of Neonatology and Neonatal Intensive Care Unit, Department of Maternal and Child Health, Santa Chiara Hospital, University of Pisa, Pisa, Italy.

Among neonatal epileptic syndromes, benign familial neonatal seizures (BFNS) are often due to autosomal-dominant mutations of the KCNQ2 gene. Seizures are usually characterized by asymmetric tonic posturing with apnea with onset in the first 7 days of life; they may even occur more than 10 times per day or evolve into status epilepticus. The delivery course of our patient was uneventful and family history was negative; on the second day of life the baby became pale, rigid, and apnoic during breastfeeding and appeared jittery and irritable when stimulated or examined. Read More

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September 2019

A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy.

Epilepsia Open 2019 Sep 11;4(3):464-475. Epub 2019 Aug 11.

Division of Pharmacology, Department of Neuroscience University of Naples "Federico II" Naples Italy.

Objective: Heterozygous variants in or, more rarely, genes are responsible for early-onset developmental/epileptic disorders characterized by heterogeneous clinical presentation and course, genetic transmission, and prognosis. While familial forms mostly include benign epilepsies with seizures starting in the neonatal or early-infantile period, de novo variants in or have been described in sporadic cases of early-onset encephalopathy (EOEE) with pharmacoresistant seizures, various age-related pathological EEG patterns, and moderate/severe developmental impairment. All pathogenic variants in or occur in heterozygosity. Read More

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September 2019

Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.

Epilepsia 2019 09 16;60(9):1870-1880. Epub 2019 Aug 16.

Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.

Objective: Pathogenic variants of KCNQ2, which encode a potassium channel subunit, cause either benign (familial) neonatal epilepsy-B(F)NE)-or KCNQ2 encephalopathy (KCNQ2 DEE). We examined the characteristics of KCNQ2 variants.

Methods: KCNQ2 pathogenic variants were collected from in-house data and two large disease databases with their clinical phenotypes. Read More

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September 2019

Heterozygous loss of epilepsy gene KCNQ2 alters social, repetitive and exploratory behaviors.

Genes Brain Behav 2020 01 31;19(1):e12599. Epub 2019 Jul 31.

Department of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, Illinois.

KCNQ/K 7 channels conduct voltage-dependent outward potassium currents that potently decrease neuronal excitability. Heterozygous inherited mutations in their principle subunits K 7.2/KCNQ2 and K 7. Read More

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January 2020

KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series.

Mol Genet Genomic Med 2019 07 14;7(7):e00816. Epub 2019 Jun 14.

Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung, Taiwan.

Background: Epilepsy caused by a KCNQ2 gene mutation usually manifests as neonatal seizures during the first week of life. The genotypes and phenotypes of KCNQ2 mutations are noteworthy.

Methods: The KCNQ2 sequencings done were selected from 131 nonconsanguineous pediatric epileptic patients (age range: 2 days to 18 years) with nonlesional epilepsy. Read More

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PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.

Seizure 2019 Oct 20;71:1-5. Epub 2019 May 20.

Institute of Medical Genetics, Tokyo Women's Medical University, Japan.

Purpose: This study was performed to clarify the clinical features of Japanese patients with PRRT2 mutations.

Methods: The PRRT2 gene was analyzed in 135 patients with benign infantile epilepsy (BIE) or paroxysmal kinesigenic dyskinesia (PKD) using a direct sequencing method: 92 patients had BIE alone, 25 had both BIE and PKD, and 18 had PKD alone. Of the cases, 105 were familial, and 30 were sporadic. Read More

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October 2019

Current Overview of Neonatal Convulsions.

Sisli Etfal Hastan Tip Bul 2019 22;53(1):1-6. Epub 2019 Mar 22.

Department of Neonatology, Istanbul Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.

Neonatal convulsions are one of the most common emergency neurological events in the early period after birth. The frequency has been reported to be 1.5 to 3 in 1000 live births. Read More

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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.

Mol Med 2019 02 27;25(1). Epub 2019 Feb 27.

Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Zurich, Switzerland.

Background: Deleterious variants in the voltage-gated sodium channel type 2 (Na1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). Yet, the underlying mechanisms are still incompletely understood. Read More

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February 2019

Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report.

Medicine (Baltimore) 2019 Feb;98(8):e14698

Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, China.

Rationale: The phenotypic spectrum caused by SCN2A mutations includes benign neonatal/infantile seizures, Ohtahara syndrome, infantile spasms, West syndrome, and other unclassified epileptic phenotypes. Mutations in SCN2A have been implicated in neonatal seizure cases. Here, we described a Chinese family with 2 members having juvenile-onset myoclonus and identified a novel SCN2A point mutation within this family. Read More

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February 2019

A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome.

Epileptic Disord 2019 Feb;21(1):87-91

Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro," University of Palermo, Palermo.

Benign familial neonatal epilepsy (BFNE) is caused, in about 5% of families, by mutations in the KCNQ3 gene encoding voltage-gated potassium channel subunits. Usually, newborns with BFNE show a normal neurological outcome, but recently, refractory seizures and/or developmental disability have been reported suggesting phenotype variability associated with KCNQ3-related BFNE. Here, we describe a proband from a BFNE family carrying a novel variant in the KCNQ3 gene. Read More

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February 2019