1,228 results match your criteria EEG in Common Epilepsy Syndromes


ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.

Epilepsia 2022 May 3. Epub 2022 May 3.

Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker-Enfants Malades University Hospital, APHP, Member of European Reference Network EpiCARE, Institut Imagine, INSERM, UMR 1163, Université Paris cité, Paris, France.

The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification and definition of epilepsy syndromes in the neonate and infant with seizure onset up to 2 years of age. The incidence of epilepsy is high in this age group and epilepsy is frequently associated with significant comorbidities and mortality. The licensing of syndrome specific antiseizure medications following randomized controlled trials and the development of precision, gene-related therapies are two of the drivers defining the electroclinical phenotypes of syndromes with onset in infancy. Read More

View Article and Full-Text PDF

Acute stroke-like deficits associated with nonketotic hyperglycemic hyperosmolar state: an illustrative case and systematic review of literature.

Neurol Sci 2022 Apr 28. Epub 2022 Apr 28.

Department of Neuroscience, Neurology Unit, S. Maria Delle Croci Hospital, AUSL Romagna, Viale Vincenzo Randi 5, 48121, Ravenna, Italy.

Introduction: Nonketotic hyperglycemic hyperosmolar state (NKHHS) is associated with a wide spectrum of neurological syndromes including acute stroke-like deficits. Clinical features and etiology have not been established yet.

Methods: Here we provide a case illustration and systematic review on non-epileptic acute neurological deficits in NKHSS. Read More

View Article and Full-Text PDF

Seizures and Epilepsy in Childhood.

Continuum (Minneap Minn) 2022 04;28(2):428-456

Purpose Of Review: This article highlights basic concepts of seizures and epilepsy in pediatric patients, as well as basic treatment principles for this age group.

Recent Findings: Epilepsy is the most common neurologic disorder in childhood. Accurate diagnosis is key; in older children, epileptic seizures need to be differentiated from various paroxysmal nonepileptic events, whereas in neonates, the majority of seizures are subclinical (electroencephalographic). Read More

View Article and Full-Text PDF

Genetic Epilepsy Syndromes.

Authors:
Kenneth A Myers

Continuum (Minneap Minn) 2022 04;28(2):339-362

Purpose Of Review: This article reviews the clinical features, typical EEG findings, treatment, prognosis, and underlying molecular etiologies of the more common genetic epilepsy syndromes. Genetic generalized epilepsy, self-limited focal epilepsy of childhood, self-limited neonatal and infantile epilepsy, select developmental and epileptic encephalopathies, progressive myoclonus epilepsies, sleep-related hypermotor epilepsy, photosensitive occipital lobe epilepsy, and focal epilepsy with auditory features are discussed. Also reviewed are two familial epilepsy syndromes: genetic epilepsy with febrile seizures plus and familial focal epilepsy with variable foci. Read More

View Article and Full-Text PDF

[Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants].

Zhonghua Er Ke Za Zhi 2022 Apr;60(4):345-349

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

To summarize the phenotypes of epilepsy in patients with MBD5 gene variants. A total of 9 epileptic patients, who were treated in the Department of Pediatrics, Peking University First Hospital from July 2016 to September 2021 and detected with MBD5 gene pathogenic variants, were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed retrospectively. Read More

View Article and Full-Text PDF

Electrical status epilepticus during sleep (ESES) in benign childhood epilepsy with Centrotemporal spikes (BCECTS): insights into predictive factors, and clinical and EEG outcomes.

Eur Rev Med Pharmacol Sci 2022 03;26(6):1885-1896

Department of Pediatric Neurology, Adana City Training and Research Hospital, Adana, Turkey.

Objective: Benign childhood epilepsy with centro-temporal spikes (BCECTS), otherwise known as benign rolandic epilepsy, is the most common focal epilepsy in childhood. This study aimed to evaluate the development and resolution of ESES in children with BCECTS and evaluate the clinical and electroencephalography (EEG) parameters associated with prognosis.

Patients And Methods: Resolution of ESES was defined as the reduction of the spike-wave index (SWI) to <50%. Read More

View Article and Full-Text PDF

Generalized Fast Discharges Along the Genetic Generalized Epilepsy Spectrum: Clinical and Prognostic Significance.

Front Neurol 2022 10;13:844674. Epub 2022 Mar 10.

Epilepsy Unit, Department of Human Neurosciences, Policlinico "Umberto I", Sapienza University, Rome, Italy.

Objective: To investigate the electroclinical characteristics and the prognostic impact of generalized fast discharges in a large cohort of genetic generalized epilepsy (GGE) patients studied with 24-h prolonged ambulatory electroencephalography (paEEG).

Methods: This retrospective multicenter cohort study included 202 GGE patients. The occurrence of generalized paroxysmal fast activity (GPFA) and generalized polyspike train (GPT) was reviewed. Read More

View Article and Full-Text PDF

Deep feature fusion based childhood epilepsy syndrome classification from electroencephalogram.

Neural Netw 2022 Jun 15;150:313-325. Epub 2022 Mar 15.

Department of Neurology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310003, China.

Accurate classification of the children's epilepsy syndrome is vital to the diagnosis and treatment of epilepsy. But existing literature mainly focuses on seizure detection and few attention has been paid to the children's epilepsy syndrome classification. In this paper, we present a study on the classification of two most common epilepsy syndromes: the benign childhood epilepsy with centro-temporal spikes (BECT) and the infantile spasms (also known as the WEST syndrome), recorded from the Children's Hospital, Zhejiang University School of Medicine (CHZU). Read More

View Article and Full-Text PDF

Safety and efficacy of responsive neurostimulation in the pediatric population: Evidence from institutional review and patient-level meta-analysis.

Epilepsy Behav 2022 Apr 14;129:108646. Epub 2022 Mar 14.

Department of Neurologic Surgery, Mayo Clinic, Rochester, MN, USA.

Background: Responsive neurostimulation (RNS) is a novel technology for drug-resistant epilepsy rising from bilateral hemispheres or eloquent cortex. Although recently approved for adults, its safety and efficacy for pediatric patients is under investigation.

Methods: A comprehensive literature search (Pubmed/Medline, Scopus, Cochrane) was conducted for studies on RNS for pediatric epilepsy (<18 y/o) and supplemented by our institutional series (4 cases). Read More

View Article and Full-Text PDF

[Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children].

Zhonghua Er Ke Za Zhi 2022 Mar;60(3):232-236

Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

To analyse the clinical and gene characteristics of GRIN2B gene related neurological developmental disorders in children. The data of 11 children with GRIN2B gene related neurological developmental disorders from November 2016 to February 2021 were collected from Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health and analyzed retrospectively. The clinical features, electroencephalogram (EEG), brain imaging and gene testing results were summarized. Read More

View Article and Full-Text PDF

Effect of Sleep on Epileptic Discharges in Patients with Idiopathic Generalized Epilepsy.

Clin EEG Neurosci 2022 Mar 3:15500594221083256. Epub 2022 Mar 3.

Prof. Dr Cemil Taşçıoğlu City Hospital, Neurology, Kaptanpasa Mah. Darulaceze Cad No 27, Sisli, İstanbul, TURKEY.

It is known that sleep and sleep deprivation affect the EEG findings, onset, frequency and semiology of the seizures. Generalized spike and wave discharges were found more common in drowsiness and sleep states, especially in childhood and juvenile absence epilepsy syndromes. In this study we aimed to show the effects of short sleep on the interictal and ictal discharges of the patients with genetic generalized epileptic seizures and to show the effects of treatment on the discharges during awake and sleep states. Read More

View Article and Full-Text PDF

Limited Ability to Adjust N2 Amplitude During Dual Task Walking in People With Drug-Resistant Juvenile Myoclonic Epilepsy.

Front Neurol 2022 7;13:793212. Epub 2022 Feb 7.

Laboratory of Early Markers of Neurodegeneration, Centre for the Study of Movement, Cognition, and Mobility, Tel Aviv Sourasky Medical Centre, Neurological Institute, Tel Aviv, Israel.

Juvenile myoclonic epilepsy (JME) is one of the most common epileptic syndromes; it is estimated to affect 1 in 1,000 people worldwide. Most people with JME respond well to medication, but up to 30% of them are drug-resistant. To date, there are no biomarkers for drug resistance in JME, and the poor response to medications is identified in retrospect. Read More

View Article and Full-Text PDF
February 2022

Bilaterality of temporal EEG findings in limbic encephalitis compared to other mesiotemporal epilepsies - A retrospective cohort study.

Seizure 2022 Mar 10;96:98-101. Epub 2022 Feb 10.

Department of Neurology with Institute of Translational Neurology, University of Münster, Münster, Germany. Electronic address:

Background: The current diagnostic criteria for autoimmune limbic encephalitis (LE) stress bilaterality of temporal MRI and EEG findings. This retrospective cohort study aimed to determine whether bilaterality is indeed more common in LE than in other mesiotemporal epilepsies.

Methods: We compared EEG findings mostly from long-term EEG monitoring in patients with LE (n=59), hippocampal sclerosis (HS, n=44), and mesiotemporal tumors (n=24). Read More

View Article and Full-Text PDF

Epilepsy with Eyelid myoclonias - A diagnosis concealed in other genetic generalized epilepsies with photoparoxysmal response.

Epilepsy Res 2022 Mar 11;181:106886. Epub 2022 Feb 11.

Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA. Electronic address:

Objective: Epilepsy with eyelid myoclonias(EMA) is a genetic generalized epilepsy (GGE) characterized by eyelid myoclonia, eye-closure sensitivity and photosensitivity. Data on EMA patients who specifically present with photoparoxysmal response on EEG is lacking. EMA is an under-recognized syndrome which is frequently misclassified as another GGE. Read More

View Article and Full-Text PDF

Vigabatrin-associated brain abnormalities on MRI and other neurological symptoms in patients with West syndrome.

Epilepsy Behav 2022 04 15;129:108606. Epub 2022 Feb 15.

Department of Neurology, Hospital de Pediatría "Prof Dr Juan P Garrahan", Buenos Aires, Argentina.

Objectives: Report a series of children with West syndrome (WS) treated with vigabatrin (VGB) who developed characteristic MRI alterations. In the majority, these adverse events were asymptomatic; however, some of the patients developed movement disorders and acute encephalopathy.

Methods: This is a retrospective analysis of our epilepsy clinical and EEG database of 288 patients with WS seen between 2014 and 2020. Read More

View Article and Full-Text PDF

Probiotic supplementation alleviates absence seizures and anxiety- and depression-like behavior in WAG/Rij rat by increasing neurotrophic factors and decreasing proinflammatory cytokines.

Epilepsy Behav 2022 03 10;128:108588. Epub 2022 Feb 10.

Department of Histology-Embryology, Faculty of Medicine, University of Erciyes, Kayseri, Turkey.

Aim: Epilepsy is one of the most common chronic brain disorders that affect millions of people worldwide. In the present study, we investigated the effects of probiotic supplementation on absence epilepsy and anxiety-and depression-like behavior in WAG/Rij rats.

Material And Method: Fourteen male WAG/Rij rats (absence-epileptic) and seven male Wistar rats (nonepileptic) were used. Read More

View Article and Full-Text PDF

Source EEG reveals that Rolandic epilepsy is a regional epileptic encephalopathy.

Neuroimage Clin 2022 7;33:102956. Epub 2022 Feb 7.

Department of Neurology, Massachusetts General Hospital, Boston, MA 02114; Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114. Electronic address:

Rolandic epilepsy is the most common form of epileptic encephalopathy, characterized by sleep-potentiated inferior Rolandic epileptiform spikes, seizures, and cognitive deficits in school-age children that spontaneously resolve by adolescence. We recently identified a paucity of sleep spindles, physiological thalamocortical rhythms associated with sleep-dependent learning, in the Rolandic cortex during the active phase of this disease. Because spindles are generated in the thalamus and amplified through regional thalamocortical circuits, we hypothesized that: 1) deficits in spindle rate would involve but extend beyond the inferior Rolandic cortex in active epilepsy and 2) regional spindle deficits would better predict cognitive function than inferior Rolandic spindle deficits alone. Read More

View Article and Full-Text PDF

Duration of postictal impaired awareness after bilateral tonic-clonic seizures: EEG and patient characteristics.

Epilepsy Behav 2022 03 2;128:108576. Epub 2022 Feb 2.

Department of Neurology, University of California, Davis, United States. Electronic address:

Objective: Ictal and postictal phenomena that may impact the duration of postictal impaired awareness have not been well studied. Postictal unresponsiveness invariably occurs following bilateral tonic-clonic seizures (BTCS). Bilateral tonic-clonic seizures are a major risk factor for sudden unexpected death in epilepsy (SUDEP). Read More

View Article and Full-Text PDF

Epilepsy and brain network hubs.

Epilepsia 2022 03 28;63(3):537-550. Epub 2022 Jan 28.

Department of Neurology, Emory University, Atlanta, Georgia, USA.

Epilepsy is a disorder of brain networks. A better understanding of structural and dynamic network properties may improve epilepsy diagnosis, treatment, and prognostics. Hubs are brain regions with high connectivity to other parts of the brain and are typically situated along the brain's most efficient communication pathways, supporting large-scale brain wiring and many higher order neural functions. Read More

View Article and Full-Text PDF

Robust chronic convulsive seizures, high frequency oscillations, and human seizure onset patterns in an intrahippocampal kainic acid model in mice.

Neurobiol Dis 2022 05 26;166:105637. Epub 2022 Jan 26.

Departments of Child & Adolescent Psychiatry, Neuroscience & Physiology, and Psychiatry, and the Neuroscience Institute, New York University Langone Health, 550 First Ave., New York, NY 10016, United States of America; Center for Dementia Research, The Nathan Kline Institute for Psychiatric Research, New York State Office of Mental Health, 140 Old Orangeburg Road, Bldg. 35, Orangeburg, NY 10962, United States of America. Electronic address:

Intrahippocampal kainic acid (IHKA) has been widely implemented to simulate temporal lobe epilepsy (TLE), but evidence of robust seizures is usually limited. To resolve this problem, we slightly modified previous methods and show robust seizures are common and frequent in both male and female mice. We employed continuous wideband video-EEG monitoring from 4 recording sites to best demonstrate the seizures. Read More

View Article and Full-Text PDF

Neonatal Seizures-Perspective in Low-and Middle-Income Countries.

Indian J Pediatr 2022 Mar 20;89(3):245-253. Epub 2022 Jan 20.

Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Trust, London, UK.

Neonatal seizures are the commonest neurological emergency and are associated with poor neurodevelopmental outcome. While they are generally difficult to diagnose and treat, they pose a significant clinical challenge for physicians in low- and middle-income countries (LMIC). They are mostly provoked seizures caused by an acute brain insult such as hypoxic-ischemic encephalopathy (HIE), ischemic stroke, intracranial hemorrhage, infections of the central nervous system, or acute metabolic disturbances. Read More

View Article and Full-Text PDF

Ictal onset stereoelectroencephalography patterns in temporal lobe epilepsy: type, distribution, and prognostic value.

Acta Neurochir (Wien) 2022 02 18;164(2):555-563. Epub 2022 Jan 18.

Beijing Institute of Functional Neurosurgery, Xuanwu Hospital, Capital Medical University, No. 45 Changchun Street, Xicheng District, Beijing, 100053, China.

Objective: The aim of this study was to investigate the different ictal onset stereoelectroencephalography patterns (IOPs) in patients with drug-resistant temporal lobe epilepsy (TLE). We examined whether the IOPs relate to different TLE subtypes, MRI findings, and underlying pathologies, and we evaluated their prognostic value for predicting the surgical outcome.

Methods: We retrospectively analyzed data from patients with TLE who underwent stereoelectroencephalography (SEEG) monitoring followed by surgical resection between January 2018 and January 2020. Read More

View Article and Full-Text PDF
February 2022

Absence seizures during sleep in childhood absence epilepsy: A sign of drug resistance?

Brain Dev 2022 Apr 9;44(4):313-317. Epub 2021 Dec 9.

Pediatric Cardiology Department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, China.

Background: Childhood absence epilepsy (CAE) is a common pediatric epilepsy syndrome. It is characterized by typical absence seizures and a highly recognizable electroencephalography (EEG) pattern. But little is known about absence seizures during sleep. Read More

View Article and Full-Text PDF

Infantile spasms: Knowledge, attitude, and practice of pediatricians in Turkey.

Epilepsy Behav 2022 01 2;126:108456. Epub 2021 Dec 2.

Department of Pediatric Neurology, Children's' Hospital, Ankara City Hospital, Ankara, Turkey.

Background: Infantile Spasms Syndrome (ISS) encompasses both West syndrome (WS), comprising epileptic spasms, psychomotor stagnation or regression and hypsarrhythmia, and also infants presenting with epileptic spasms who do not fulfill the triad of WS.

Objective: To investigate the knowledge, attitude, and practice regarding ISS among Turkish pediatricians and pediatric residents.

Methods: A cross-sectional study was conducted among pediatricians and pediatric residents from all regions of Turkey. Read More

View Article and Full-Text PDF
January 2022

Probability of Remission of the Main Epileptic Syndromes in Childhood.

J Child Neurol 2022 01 24;37(1):89-97. Epub 2021 Nov 24.

16815Torrecárdenas Hospital, Almería, Spain.

Aim: To determine the long-term probability of remission without antiepileptic treatment of common epileptic syndromes and of children without a specific syndromic diagnosis.

Patients And Methods: All children less than 14 years old with 2 or more unprovoked seizures seen at our hospital between June 1, 1994, and March 1, 2011 (n = 680), were included and prospectively followed up until August 15, 2020. Syndromic diagnosis was made retrospectively but blinded to subsequent evolution, employing the data available at 6 months after diagnosis and under predefined operational criteria. Read More

View Article and Full-Text PDF
January 2022

Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.

Neurol Genet 2021 Dec 15;7(6):e613. Epub 2021 Nov 15.

Department of Epilepsy Genetics and Personalized Treatment (K.M.J., E.G., C.E.G., A.B., R.S.M., G.R.), The Danish Epilepsy Centre Filadelfia, member of ERN EpiCARE, Dianalund; Institute for Regional Health Research (K.M.J., E.G., A.B., R.S.M), University of Southern Denmark, Odense; Department of Neurology (R.P.W.R.), Maastricht University Medical Centre (MUMC+); Academic Centre for Epileptology Kempenhaeghe/MUMC+ (R.P.W.R.), Maastricht; School for Mental Health and Neuroscience (R.P.W.R.), Maastricht University; Department of Clinical Genetics (M.R.), Maastricht University Medical Center, the Netherlands; APHP, Sorbonne Université (S.W.), Hôpital Armand Trousseau, UF de Génétique Clinique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Paris, France; Department of Genetics (B.K., J.B., T.C., C.N.), Pitié-Salpêtrière hospital, APHP, Sorbonne Université, Paris, France; Department of Clinical Genomics (K.J.W.), Mayo Clinic Florida, Jacksonville; Service de Génétique Médicale (B.I., A.P., A.-S.D.-P.), CHU de Nantes; Centre de Référence Anomalies du Développement et Syndromes Malformatifs (L.F., A.G., S.M.), FHU TRANSLAD, CHU Dijon; INSERM UMR1231 (L.F., A.G., S.M., F.T.M.-T., A.V.), GAD team, Université de Bourgogne-Franche Comté, Dijon; Unité Fonctionnelle dInnovation diagnostique des maladies rares (F.T.-M.-T., A.V.), Pôle de Biologie, FHU-TRANSLAD, CHU Dijon Bourgogne; Department of Medical Genetics (C.C., M.W.), Rare Diseases and Personalized Medicine, CHU Montpellier, France; Childrens Hospital Colorado (A.L.), Anschutz Medical Campus, Aurora, CO; Division of Clinical Neuroscience (M.J.E., J.P.A.), Department of Pediatrics, Alberta, Canada; Alberta Childrens Hospital (J.P.A., F.B.), Cumming School of Medicine, University of Calgary, Alberta, Canada; Department of Pediatrics (W.A.-H.), Division of Genetics and Genomics, Boston Childrens Hospital and Harvard Medical School, MA; Instituto de Neurología Infanto Juvenil (B.G.), Neuroinfan; Instituto de Genetica-Hospital Universitario (A.M.), Universidad Nacional de Cuyo; Instituto de Histología y Embriología de Mendoza (IHEM) (L.M.), Universidad Nacional de Cuyo, Mendoza, Argentina; Azienda Ospedaliera Universitaria Pisana (A.O.); Neuropaediatric Section (A.B.), Pediatric Department, Santa Chiara University Hospital, Pisa; Department of Medical Sciences- Pediatric Section (A.S.), University of Ferrara, Italy; CHU Bordeaux (J.V.-G.), Bordeaux, France; West Midlands Regional Genetics Service (J.V.), Birmingham Women's and Children's Hospital, Birmingham, UK; Child Neuropsychiatric Division (S.D., L.G.), Spedali Civili, Brescia, Italy; Institut de Pathologie et de Génétique (IPG) (S.M.), Gosselies, Belgium; Divisions of Child and Adolescent Neurology and Epilepsy (E.W.), Department of Neurology, Mayo Clinic, Rochester, MN; Oxford Centre for Genomic Medicine (S.H., H.S.); Oxford University Hospitals NHS Trust (U.K.), United Kingdom; Blank Children's Developmental Center (N.N.), Unity Point Health, West Des Moines, IA; Sutter Medical Centre (S.A.), Sacramento, CA; Kennedy Krieger Institute (J.S.C.); Johns Hopkins University (S.R.N.), Baltimore, MD; Provincial Medical Genetics Program (A.C.), St. Johns Medical Center, NL, Canada; University Medical Center Utrecht (E.H.B.), Utrecht, the Netherlands; Rush University Medical Center (M.H.L., C.B.), Chicago, IL; Medical Genetic Unit (S.B., D.O.), Maternal and Child Department, Ferrara University Hospital; Medical Science Department (D.O.), Ferrara University; Neonatal Intensive Care Unit (E.B.), Pediatric Section, Department of Medical Sciences, Ferrara University, Italy; Department of Clinical Genetics (C.R.), LUMC, Leiden, the Netherlands; Pediatric Unit, Maternal and Child Department (R.F.), Ferrara University Hospital, Italy; APHP Trousseau (A.A., C.M., D.H.); Service de Neuropédiatrie (D.R., A.I.), Hopital Trousseau, Sorbonne Université, APHP.SU, Paris, France; HudsonAlpha Institute for Biotechnology (D.B.), Huntsville, AL; Department of Pediatrics (D.S., S.K.), Weill Cornell Medicine, New York; Queensland Children's Hospital (D.C.), Brisbane, QL, Australia; Department of Neurology (B.G.), Stichting Epilepsie Instellingen Nederland, Zwolle, the Netherlands; Department of Neurology (O.D.), NYU School of Medicine; Atrium Healths Levine Childrens Hospital (L.A.D.), Charlotte, NC; Phoenix Childrens Hospital (T.G.), the University of Arizona College of Medicine; Division of Child Neurology and Psychiatry (D.P.), Azienda Ospedaliero Universitaria; Neurology and Epileptology Unit (I.C.), Pediatric Department, Brotzu Hospital Trust, Cagliari, Italy; Liverpool Centre for Genomic Medicine (L.G., G.R.), Liverpool Womens NHS Foundation Trust, Liverpool, United Kingdom; U.O. Genetica Medica (C.G.), Policlinico S. Orsola-Malpighi, Bologna, Italy; Department of Children's neurosciences (R.R.S.), Guys and ST. Thomas' NHS foundation trust, London United Kingdom; Department of Child Neuropsychiatry (G.C.), University of Verona, Italy; Christian Medical College (S.Y.), Vellore, India; Neurology Pediatric Unit (F.G.), Pediatric Department, Fernandes Figueira Institute, Fiocruz, Brazil; Royal Childrens Hospital (F.J.L.), Melbourne, Australia; Research & Innovation S.r.l. (D.C.), Padova; Pediatric Neurology Unit (S.O., B.S., F.V.), V. Buzzi Childrens Hospital, Milan, Italy; Department of Paediatrics (A.V.A.), London Health Science Centre/Schulich School of Medicine and Dentisty, University of Western Ontario, London, ON, Canada; Ambry Genetics (K.R.), Aliso Viejo, CA; Advocate Lutheran General Hospital (F.T.), Park Ridge, IL; PPG Pediatric Neurology (A.S.K.), Parkview Health, Fort Wayne, IN; Department of Medical Genetics (C.O.), AP-HP, Necker-Enfants Malades Hospital, Paris, France; Department of Neurology (W.B.), UC Davis, Sacramento, CA; Department of Pediatrics (K.K.), Texas A&M University Medical School, Austin; Leeds General Infirmary (S.H,), United Kingdom; Thompson River Pediatrics (A.F.), Johnstown, CO; Department of Neuropediatrics (S.G.), University Hospital Copenhagen, Denmark; Division of Neurology (F.B., R.W.), Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; Hunter Genetics Unit, Waratah, Australia (A.R.); Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom (N.F., D.H.); KBO-Kinderzentrum München, Munich, Germany (M.S.); Division of Neurology, Epilepsy Neurogenetics Initiative, Childrens Hospital of Philadelphia (J.B., K.L.H., I.H., X.R.O-G, H.D.); Perelman School of Medicine, Philadelphia, PA (J.B.); PURA Syndrome Foundation, Greensborough, Australia (I.H., M.A., D.S.); PURA Syndrome Foundation, Kansas City, MO (I.H., D.S.).

Background And Objectives: Purine-rich element-binding protein A () gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of syndrome by collecting data, including EEG, from a large cohort of affected patients. Read More

View Article and Full-Text PDF
December 2021

Subjective distinguishability of seizure and non-seizure Déjà Vu: A case report, brief literature review, and research prospects.

Epilepsy Behav 2021 12 1;125:108373. Epub 2021 Nov 1.

Department of Neurology, Emory University School of Medicine, 101 Woodruff Circle, Atlanta, GA 30322, USA; Department of Biomedical Engineering, The Georgia Institute of Technology, Atlanta, GA 30332, USA. Electronic address:

Roughly two-thirds of all people report having experienced déjà vu-the odd feeling that a current experience is both novel and a repeat or replay of a previous, unrecalled experience. Reports of an association between déjà vu and seizure aura symptomatology have accumulated for over a century, and frequent déjà vu is also now known to be associated with focal seizures, particularly those of a medial temporal lobe (MTL) origin. A longstanding question is whether seizure-related déjà vu has the same basis and is the same subjective experience as non-seizure déjà vu. Read More

View Article and Full-Text PDF
December 2021

[Genotypes and clinical features of neonatal-onset genetic epilepsy in 141 patients].

Zhonghua Er Ke Za Zhi 2021 Sep;59(9):767-771

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

To summarize the genotypes and clinical features of neonatal-onset genetic epilepsy. Patients (114 cases) with identified gene variants were collected from May 2013 to May 2019 in Peking University First Hospital, retrospectively. The genotype, clinical, electroencephalographic and neuroimaging characteristics were analyzed. Read More

View Article and Full-Text PDF
September 2021

More than one self-limited epilepsy of childhood in the same patient: A multicenter study.

Epilepsy Res 2021 Nov 17;177:106768. Epub 2021 Sep 17.

Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. Electronic address:

Objective: We describe the evolution of the electroclinical picture of patients with different types of self-limited epilepsy of childhood (SLEC) occurring at the same or at different times with or without atypical evolutions as well as patients with SLEC associated with childhood absence epilepsy (CAE).

Material And Methods: A multicenter, retrospective, descriptive study was conducted evaluating patients with SLEC who had focal seizures of different types of SLEC including atypical evolutions as well as SLEC associated with absence epilepsy seen at eight Argentinian centers between April 2000 and April 2019. Of 7705 patients with SLEC, aged between 2 and 14 years (mean, 7. Read More

View Article and Full-Text PDF
November 2021

Ictal vocalizations are relatively common in myoclonic-atonic seizures associated with Doose syndrome: an audio-video-polygraphic analysis.

Epileptic Disord 2021 Oct;23(5):706-712

Department of Pediatrics, Tokyo Women's Medical University, Tokyo 162, Japan.

The aim of this study was to investigate ictal vocalizations associated with myoclonic (MS) and myoclonic-atonic seizures (MAS) in patients with myoclonic epilepsy in infants (MEI) and epilepsy with myoclonic-atonic seizures (EMAS, Doose syndrome), respectively. Subjects were retrospectively recruited among patients with MEI and EMAS for whom ictal video-polygraphs were recorded between 1990 and 2019. We reviewed all MS and MAS in order to estimate how often they were associated with vocalizations, and analyze the temporal relationship between vocalizations and spike-wave complexes (SWCs) and myoclonic EMG potentials based on simultaneous examination of the polygraphs and sound signals. Read More

View Article and Full-Text PDF
October 2021