210 results match your criteria Normal EEG Variants


Random Neural Network Based Epileptic Seizure Episode Detection Exploiting Electroencephalogram Signals.

Sensors (Basel) 2022 Mar 23;22(7). Epub 2022 Mar 23.

School of Computing, Engineering and Built Environment, Glasgow Caledonian University, Glasgow G4 0BA, UK.

Epileptic seizures are caused by abnormal electrical activity in the brain that manifests itself in a variety of ways, including confusion and loss of awareness. Correct identification of epileptic seizures is critical in the treatment and management of patients with epileptic disorders. One in four patients present resistance against seizures episodes and are in dire need of detecting these critical events through continuous treatment in order to manage the specific disease. Read More

View Article and Full-Text PDF

EEG Essentials.

Authors:
William O Tatum

Continuum (Minneap Minn) 2022 04;28(2):261-305

Purpose Of Review: EEG is the best study for evaluating the electrophysiologic function of the brain. The relevance of EEG is based on an accurate interpretation of the recording. Understanding the neuroscientific basis for EEG is essential. 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

[Analysis of clinical and genetic characteristics of epilepsy associated with chromosome 16p11.2 microdeletion].

Zhonghua Er Ke Za Zhi 2022 Apr;60(4):339-344

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

To investigate the clinical and genetic characteristics of epilepsy associated with chromosome 16p11.2 microdeletion. The patients (=10) with 16p11. Read More

View Article and Full-Text PDF

GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.

J Peripher Nerv Syst 2022 Apr 5. Epub 2022 Apr 5.

Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.

X-linked Charcot-Marie-Tooth type 1 (CMTX1) disease is one of the most common subtypes of inherited neuropathies and is caused by mutations in the GJB1 gene. To date, more than 400 mutations have been reported in GJB1 worldwide but none in sub-Saharan Africa (SSA). We aimed to clinically characterize patients with CMTX1 and identify the genetic defects. Read More

View Article and Full-Text PDF

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

Am J Med Genet A 2022 Apr 1. Epub 2022 Apr 1.

Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan, USA.

Multilocus imprinting disturbances (MLID) have been associated with up to 12% of patients with Beckwith-Wiedemann syndrome, Silver-Russell syndrome, and pseudohypoparathyroidism type 1B (PHP1B). Single-gene defects affecting components of the subcortical maternal complex (SCMC) have been reported in cases with multilocus hypomethylation defects. We present a patient with speech and language impairment with mild Angelman syndrome (AS) features who demonstrates maternal hypomethylation at 15q11. 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

NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination, and seizure threshold.

Brain 2022 Feb 8. Epub 2022 Feb 8.

University of Maryland School of Medicine Departments of Neurology and Pharmacology, Baltimore, MD, 21201, USA.

Mutations in nitrogen permease regulator-like 3 (NPRL3), a component of the GATOR1 complex within the mechanistic target of rapamycin (mTOR) pathway, are associated with epilepsy and malformations of cortical development. Little is known about the effects of NPRL3 loss on neuronal mTOR signaling and morphology, or cerebral cortical development and seizure susceptibility. We report the clinical phenotypic spectrum of a founder NPRL3 pedigree (c. Read More

View Article and Full-Text PDF
February 2022

Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.

Mol Genet Metab 2021 12 24;134(4):353-358. Epub 2021 Nov 24.

Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy; C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy. Electronic address:

Alexander disease (AxD) is a leukodystrophy that primarily affects astrocytes and is caused by dominant variants in the Glial Fibrillary Acidic Protein gene. Three main classifications are currently used, the traditional one defined by the age of onset, and two more recent ones based on both clinical features at onset and brain MRI findings. In this study, we retrospectively included patients with genetically confirmed pediatric-onset AxD. Read More

View Article and Full-Text PDF
December 2021

Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death.

J Am Heart Assoc 2021 12 24;10(23):e021170. Epub 2021 Nov 24.

Department of Cardiovascular Medicine Mayo Clinic Rochester MN.

Background Sudden cardiac arrest is the leading mode of death in the United States. Epilepsy affects 1% of Americans; yet epidemiological data show a prevalence of 4% in cases of sudden cardiac arrest. Sudden unexpected death in epilepsy (SUDEP) may share features with sudden cardiac arrest. Read More

View Article and Full-Text PDF
December 2021

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

Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.

Epilepsia Open 2022 03 18;7(1):170-180. Epub 2021 Nov 18.

Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.

Recessive variants in RARS2, a nuclear gene encoding a mitochondrial protein, were initially reported in pontocerebellar hypoplasia. Subsequently, a recessive RARS2 early-infantile (<12 weeks) developmental and epileptic encephalopathy was described with hypoglycaemia and lactic acidosis. Here, we describe two unrelated patients with a novel RARS2 phenotype and reanalyse the published RARS2 epilepsy phenotypes and variants. Read More

View Article and Full-Text PDF

Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.

Brain 2021 Oct 11. Epub 2021 Oct 11.

Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre; Dianalund, Denmark.

A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors and neurodevelopmental disorders has largely been disregarded due to conflicting conclusions from early studies. However, we identified seven heterozygous missense GABRD variants in 10 patients with neurodevelopmental disorders and generalized epilepsy. One variant occurred in two sibs of healthy parents with presumed somatic mosaicism, another segregated with the disease in three affected family members, and the remaining five occurred de novo in sporadic patients. Read More

View Article and Full-Text PDF
October 2021

Genetic-cellular epilepsy: Clues to diagnosing newborns with neonatal seizures.

Seizure 2021 Nov 22;92:68-75. Epub 2021 Aug 22.

University Medical Centre Ljubljana, Division of Paediatrics, Department of Neonatology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. Electronic address:

Objective: The aim of this study was to analyse clinical characteristics of newborns with genetic-cellular epilepsy (GCE) to compare them to those of newborns with seizures with other aetiologies and elucidate clues to the diagnosis of GCE.

Methods: This retrospective single-centre study analysed data from an 8-year cohort of newborns with seizures from 2010-2017. Clinical, neurophysiological, laboratory, and imaging data and outcomes of children with GCE were compared to those of newborns with seizures with other aetiologies. Read More

View Article and Full-Text PDF
November 2021

Neurobehavioral Biomarkers: An EEG Family Reunion.

J Clin Neurophysiol 2022 Feb;39(2):129-134

Harvard Medical School, Boston, Massachusetts, U.S.A.

Summary: The field of clinical EEG has had an uneasy relationship with the use of this technology for clinical cognitive applications and often for good reason. However, apart from its clinical use, EEG has had a tradition as a major tool in cognitive psychology and cognitive neuroscience dating back at least to the 1960s. Based on accumulated knowledge from its research application, EEG-based biomarkers are beginning to see applications in clinical trials and may eventually enter clinical care. Read More

View Article and Full-Text PDF
February 2022

Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.

Dev Med Child Neurol 2022 01 18;64(1):125-134. Epub 2021 Jul 18.

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

Aim: To further identify and broaden the phenotypic characteristics and genotype spectrum of the dehydrodolichol diphosphate synthase (DHDDS) gene.

Method: Pathogenic variants of DHDDS were identified by whole-exome sequencing; clinical data of 10 patients (six males, four females; age range 2-14y; mean age 5y 9mo, SD 3y 3mo) were collected and analysed.

Results: All patients had seizures, and myoclonic seizures could be seen in eight patients, with myoclonic status epilepticus in three. Read More

View Article and Full-Text PDF
January 2022

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.

Ann Neurol 2021 08 13;90(2):274-284. Epub 2021 Jul 13.

Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia.

Objective: The MAST family of microtubule-associated serine-threonine kinases (STKs) have distinct expression patterns in the developing and mature human and mouse brain. To date, only MAST1 has been conclusively associated with neurological disease, with de novo variants in individuals with a neurodevelopmental disorder, including a mega corpus callosum.

Methods: Using exome sequencing, we identify MAST3 missense variants in individuals with epilepsy. Read More

View Article and Full-Text PDF

Resting State Alpha Electroencephalographic Rhythms Are Differently Related to Aging in Cognitively Unimpaired Seniors and Patients with Alzheimer's Disease and Amnesic Mild Cognitive Impairment.

J Alzheimers Dis 2021 ;82(3):1085-1114

Department of Physiology and Pharmacology "Vittorio Erspamer", Sapienza University of Rome, Rome, Italy.

Background: In relaxed adults, staying in quiet wakefulness at eyes closed is related to the so-called resting state electroencephalographic (rsEEG) rhythms, showing the highest amplitude in posterior areas at alpha frequencies (8-13 Hz).

Objective: Here we tested the hypothesis that age may affect rsEEG alpha (8-12 Hz) rhythms recorded in normal elderly (Nold) seniors and patients with mild cognitive impairment due to Alzheimer's disease (ADMCI).

Methods: Clinical and rsEEG datasets in 63 ADMCI and 60 Nold individuals (matched for demography, education, and gender) were taken from an international archive. Read More

View Article and Full-Text PDF
September 2021

Age-related evolution of EEG in Dravet syndrome: Meta-analysis of 155 patients.

Seizure 2021 Oct 11;91:108-111. Epub 2021 Jun 11.

Research Institute of the McGill University Medical Centre, 1001 Décarie Blvd, Montreal, Quebec, H4A 3J1, Canada; Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, 1001 Décarie Blvd, Montreal, Quebec, H4A 3J1, Canada; Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, 1001 Décarie Blvd, Montreal, Quebec, H4A 3J1, Canada. Electronic address:

Purpose: Dravet syndrome is an early-onset developmental and epileptic encephalopathy caused by pathogenic SCN1A variants in 80-90% of patients. EEG is initially normal, but abnormalities, both generalized and focal, may develop later. There is a limited understanding of typical EEG evolution in Dravet syndrome. Read More

View Article and Full-Text PDF
October 2021

[Clinical features of epilepsy in children with IRF2BPL gene variation].

Zhonghua Er Ke Za Zhi 2021 Jun;59(6):506-510

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

To summarize the genotype and phenotype of epilepsy in patients with interferon regulatory factor 2 binding protein-like (IRF2BPL) gene variants. Data of 6 epilepsy patients with IRF2BPL gene variants seen from May 2017 to September 2020 in the Department of Pediatrics of Peking University First Hospital were retrospectively collected. The clinical characteristics and genetic test results were analyzed. Read More

View Article and Full-Text PDF

Identification of a novel variant p.Ser606Gly in SCN3A associated with childhood absence epilepsy.

Epilepsy Res 2021 09 2;175:106682. Epub 2021 Jun 2.

School of Basic Medical Sciences, Xinxiang Medical University, Xinxiang, China. Electronic address:

Sodium (Na) channels are the basis for action potential generation and propagation, which play a key role in the regulation of neuronal excitability. SCN3A is a gene encoding for sodium channel protein type 3 subunit alpha (or known as Nav1.3). Read More

View Article and Full-Text PDF
September 2021

Zika Virus Infection Associated with Autism Spectrum Disorder: A Case Report.

Neuroimmunomodulation 2021 3;28(4):229-232. Epub 2021 Jun 3.

Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

Introduction: The aim of this case was to investigate the association of the Zika virus infection in utero with the autism spectrum disorder (ASD) as clinical outcome that presented no congenital anomalies.

Methods: ASD was diagnosed in the second year of life by different child neurologists and confirmed by DSM-5 and ASQ. After that, an extensive clinical, epidemiological, and genetic evaluations were performed, with main known ASD causes ruled out. Read More

View Article and Full-Text PDF
December 2021

Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.

Epilepsia 2021 06 26;62(6):e82-e87. Epub 2021 Apr 26.

Faculty of Medicine and Health Sciences, Department of Basic and Applied Medical Sciences, Ghent University, Ghent, Belgium.

We identified nine patients from four unrelated families harboring three biallelic variants in SCN1B (NM_001037.5: c.136C>T; p. Read More

View Article and Full-Text PDF

Mobile ear-EEG to study auditory attention in everyday life : Auditory attention in everyday life.

Behav Res Methods 2021 10 15;53(5):2025-2036. Epub 2021 Mar 15.

Neurophysiology of Everyday Life Group, Department of Psychology, University of Oldenburg, Oldenburg, Germany.

Most research investigating auditory perception is conducted in controlled laboratory settings, potentially restricting its generalizability to the complex acoustic environment outside the lab. The present study, in contrast, investigated auditory attention with long-term recordings (> 6 h) beyond the lab using a fully mobile, smartphone-based ear-centered electroencephalography (EEG) setup with minimal restrictions for participants. Twelve participants completed iterations of two variants of an oddball task where they had to react to target tones and to ignore standard tones. Read More

View Article and Full-Text PDF
October 2021

Paroxysmal kinesigenic dyskinesia associated with a novel POLG variant: A case report.

Medicine (Baltimore) 2021 Jan;100(4):e24395

Department of Neurology, The First Hospital of China Medical University, Heping District, Shenyang, China.

Introduction: Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disease characterized by recurrent dyskinesia or choreoathetosis triggered by sudden movements. Pathogenic variants in PRRT2 are the main cause of PKD. However, only about half of clinically diagnosed PKD patients have PRRT2 mutations, indicating that additional undiscovered causative genes could be implicated. Read More

View Article and Full-Text PDF
January 2021

Prevalence of benign epileptiform variants from an EEG laboratory in India and frequency of their misinterpretation.

Epilepsy Res 2021 02 5;170:106539. Epub 2021 Jan 5.

Department of Neurology, Smt. B. K. Shah Medical Institute and Research Center, Sumandeep Vidyapeeth, Vadodara, Gujarat, India.

Objective: To prospectively study the prevalence of benign epileptiform variants (BEVs) and their impact on epilepsy misdiagnosis.

Methods: Consecutive patients, older than one year, who underwent EEG from January 2016 to December 2019 were prospectively studied for the presence of BEVs. We used descriptions of Klass and Westmoreland (1985) to categorize the BEVs. Read More

View Article and Full-Text PDF
February 2021

Attentional capture by a color singleton is stronger at spatially relevant than irrelevant locations: Evidence from an ERP study.

Psychophysiology 2020 10 20;57(10):e13640. Epub 2020 Jul 20.

Department of Psychology, Sun Yat-Sen University, Guangzhou, China.

Top-down spatial attention can modulate contingent attentional capture, but the underlying mechanism is still not clear. Using variants of spatial cueing paradigms, our previous event-related potential study showed that peripheral color singleton cues with task-relevant features captured attention (indexed by cue-elicited N2pc) even when the targets appeared at central locations, but the magnitude of attentional capture was smaller than when the targets appeared at same peripheral locations. One reasonable explanation is that the modulation effect is due to spatial relevance of cues. Read More

View Article and Full-Text PDF
October 2020

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.

Epilepsia 2021 02 7;62(2):325-334. Epub 2021 Jan 7.

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Objective: Asparagine-linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent ALG13 de novo variant, p.(Asn107Ser), with normal transferrin electrophoresis. Read More

View Article and Full-Text PDF
February 2021

Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants.

Eur J Paediatr Neurol 2021 Jan 24;30:25-28. Epub 2020 Dec 24.

Division of Child Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada; Department of Neurology & Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address:

Heterozygous pathogenic WAC variants cause Desanto-Shinawi syndrome; affected patients have dysmorphic features, developmental impairment and behavioral abnormalities. Seizures are reported in one quarter, including tonic-clonic, absence, and febrile seizures. This study aimed to better understand the phenotypic spectrum of epilepsy and development in Desanto-Shinawi syndrome. Read More

View Article and Full-Text PDF
January 2021

Clinical variations of epileptic syndrome associated with PACS2 variant.

Brain Dev 2021 Feb 23;43(2):343-347. Epub 2020 Nov 23.

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

Background: Recent studies have suggested that two PACS2 pathogenic variants, c.625G > A (p.Glu209Lys) and c. Read More

View Article and Full-Text PDF
February 2021