502 results match your criteria: "Normal EEG Variants"

A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis.

Eur J Transl Myol

December 2024

Department of Neurosciences, Section of Rehabilitation, University of Padova, Padova, Italy; Orthopedic Rehabilitation Unit, Padova University Hospital, Padova.

Scoliosis is a three-dimensional spinal deformity characterized by a lateral deviation of at least 10° Cobb, categorized into idiopathic and non-idiopathic forms, caused by identifiable factors like congenital abnormalities, neuromuscular conditions, or genetic syndromes. This case report discusses a 15-year-old girl with growth delay and growth hormone (GH) deficiency who experienced rapid scoliosis progression. Initial evaluations were normal, and electroencephalography (EEG) showed nonspecific alterations, but further assessment revealed a MYH3 gene variant associated with scoliosis, short stature, and distinct facial features.

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Introduction: Galloway-Mowat syndrome type 3 (GAMOS3) is a rare genetic disorder with renal and neurological complications caused by pathogenic variants in the OSGEP gene. Here, we report the molecular basis and clinical features in an Iranian family.

Methods: Our proband, a 10-month-old female patient, presented with microcephaly, global developmental delay, lower limb spasticity, facial dysmorphisms, and renal tubulopathy.

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Neuronal ceroid lipofuscinosis type 10 (NCL10) is a rare progressive neurodegenerative disease associated with homozygous or compound heterozygous mutations in the CTSD gene encoding cathepsin D protein. It is classified as congenital, infantile, or juvenile NCL10 according to the age at onset of symptoms. Six cases of juvenile onset NCL10 (JNCL10) have been reported thus far in the literature.

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The TRPM3 gene, part of the transient receptor potential (TRP) cation channel family, plays crucial roles in sensory perception and ion transport. Mutations in TRPM3 are linked to a range of neurological and developmental disorders. The c.

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Presenting symptoms of sporadic Creutzfeldt-Jakob disease (sCJD) are variable, and as imaging and EEG may be normal in the early to middle stages of the disease process, serial testing is vital when there is clinical suspicion for sCJD. We present a case of probable Heidenhain variant of sCJD (HvCJD) with notable rapid progression. A 72-year-old woman presented with neurological decline following new-onset visual changes.

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Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel Variant: A Case Report.

Neurol Genet

December 2024

From the Department of Neurology (T.B., J.-J.R., F.T.B.), University Hospital Leipzig; Institute of Human Genetics (H.F., R.A.J.), University Hospital Leipzig; Department of Psychiatry (C.P., M.K.), University of Leipzig; Hospital for Psychiatry (M.K.), Psychotherapy und Psychosomatics, Klinikum Glauchau; Department of Pediatrics (S.B.), University Hospital Leipzig; and Centre for Rare Diseases (S.B., F.T.B.), University Hospital Leipzig, Germany.

Article Synopsis
  • Inborn metabolic diseases in adults are often overlooked, particularly in routine diagnostics where suspicion is low.
  • A young patient initially diagnosed with anxiety disorder was ultimately found to have Hartnup disease after a series of unsuccessful treatments and extensive testing, which included whole-exome sequencing.
  • Following diagnosis, dietary changes and niacin supplementation led to significant improvements in the patient's condition, emphasizing the need for metabolic assessments in challenging neuropsychiatric cases.
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Article Synopsis
  • - Pathogenic variants in the SETD5 gene are linked to a neurodevelopmental disorder presenting intellectual disability, autism, and facial dysmorphisms, with some symptoms not appearing in every individual (incomplete penetrance).
  • - A study of 28 patients revealed various neurological symptoms, including low muscle tone (hypotonia), movement disorders, gait issues, and epilepsy in 14% of cases; cognitive impairments ranged from mild to severe in most participants.
  • - The research expands on existing literature to propose a correlation between specific gene variations (genotype) and the observed symptoms (phenotype) in SETD5-related disorders.
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To enhance the performance of entropy algorithms in analyzing complex time series, generalized Gaussian distribution improved permutation entropy (GGDIPE) and its multiscale variant (MGGDIPE) are proposed in this paper. First, the generalized Gaussian distribution cumulative distribution function is employed for data normalization to enhance the algorithm's applicability across time series with diverse distributions. The algorithm further processes the normalized data using improved permutation entropy, which maintains both the absolute magnitude and temporal correlations of the signals, overcoming the equal value issue found in traditional permutation entropy (PE).

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Article Synopsis
  • * Whole exome sequencing and other analyses revealed important genetic variants: bi-allelic variants in MOCS1 linked to molybdenum cofactor deficiency, and a KCNQ2 variant associated with seizures.
  • * The research demonstrated that whole exome sequencing can effectively diagnose the genetic causes of neonatal seizures, contributing to our understanding of related phenotypes, especially with sodium channel gene duplications.
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Objective: To analyze the clinical diagnosis, treatment, and prognosis of the patients with pyridoxine-dependent epilepsy (PDE) characterized by infantile epileptic spasm syndrome (IESS).

Methods: A total of 75 PDE patients with variants were diagnosed at the Department of Pediatrics of Peking University First Hospital and Peking University People's Hospital from July 2012 to June 2024, and five PDE patients with the phenotype of IESS were selected. The clinical manifestations, treatment, blood biochemistry, metabolic screening, electroencephalogram (EEG), brain magnetic resonance imaging (MRI), and gene testing results of the five PDE patients were analyzed.

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Education Research: Competency-Based EEG Education: An Online Routine EEG Examination for Adult and Child Neurology Residents.

Neurol Educ

December 2023

From the Division of Epilepsy (F.A.N.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Department of Neurology (F.A.N., S.V.Y.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Internal Medicine (H.G.), Wake Forest University School of Medicine, Winston-Salem, NC; Division of Epilepsy (R.K.), Department of Neurology, Louisiana State University Health Shreveport; Department of Neurology (R.M.), Emory University School of Medicine, Atlanta, GA; Department of Neurosurgery (S.R.), University Hospital Erlangen; Department of Neurosurgery (S.R.), University Hospital Halle (Saale), Germany; Department of Neurology (W.O.T.), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.E.S.), Wake Forest University School of Medicine, Winston-Salem, NC; Department of Clinical Neurophysiology (S.B.), Danish Epilepsy Center, Dianalund and Aarhus University Hospital; and Department of Clinical Medicine (S.B.), Aarhus University, Denmark.

Background And Objectives: We recently published expert consensus-based curricular objectives for routine EEG (rEEG) interpretation for adult and child neurology residents. In this study, we used this curriculum framework to develop and validate an online, competency-based, formative and summative rEEG examination for neurology residents.

Methods: We developed an online rEEG examination consisting of a brief survey and 30 multiple-choice questions covering EEG learning objectives for neurology residents in 4 domains: normal, abnormal, normal variants, and artifacts.

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Article Synopsis
  • The study aims to describe the electro-clinical characteristics of individuals with developmental and epileptic encephalopathy (DEE) caused by mutations in the PPP3CA gene.
  • Four unique cases are analyzed, showing different seizure patterns and developmental issues linked to specific pathogenic variants in the gene.
  • The findings suggest the type and location of these mutations significantly affect clinical outcomes, highlighting the need for more research and collaboration in this rare condition.
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Article Synopsis
  • Mitochondrial cytopathies, particularly from MT-TL1 and MT-ND5 mutations, can lead to mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), marked by multi-organ dysfunction, with a novel MT-ND5 variant being only the second reported case linked to MELAS.
  • A middle-aged man presented with severe neurological symptoms, including confusion, speech difficulties, and behavioral changes, alongside a history of refractory seizures and renal disease; imaging revealed significant brain abnormalities, and muscle biopsy identified a novel mutation in the MT-ND5 gene.
  • MELAS typically features seizures, stroke-like episodes, and other neurological issues, with kidney transplants in these patients generally offering
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Article Synopsis
  • The Swiss guidelines for driving with epilepsy require EEG findings to be compatible with fitness to drive (FTD), but they lack specific criteria, prompting a nationwide survey to assess how neurologists apply this in practice.
  • In the survey, 102 neurologists reported variances in their assessment of EEG results, notably regarding normal variants and certain pathological patterns, revealing significant disagreement on evaluating FTD.
  • The findings highlight the need for more standardized criteria and additional research, as many participants supported the inclusion of EEG results in FTD assessments but noted that follow-up tests like reaction-time evaluations were infrequently conducted.
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Objective: There is currently scarce data on the electroclinical characteristics of epilepsy associated with synapsin 1 (SYN1) pathogenic variations. We examined clinical and electro-encephalographic (EEG) features in patients with epilepsy and SYN1 variants, with the aim of identifying a distinctive electroclinical pattern.

Methods: In this retrospective multicenter study, we collected and reviewed demographic, genetic, and epilepsy data of 19 male patients with SYN1 variants.

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Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.

Seizure

October 2024

Department of Medical Genetics and Developmental Biology, School of Basic Medical Sciences, Capital Medical University, Beijing, 10069, China. Electronic address:

Purpose: PCDH19 gene variants, termed PCDH19 clustering epilepsy, represent a distinct etiology of epilepsy. This study aimed to elucidate the clinical manifestations and explore the genotypes and phenotypes of children affected by PCDH19 clustering epilepsy.

Methods: This retrospective study included medical history, magnetic resonance imaging, video-electroencephalography, and genetic analysis of patients diagnosed with PCDH19 Clustering Epilepsy at the Neurology Department of Beijing Children's Hospital from 2015 to 2023.

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Objective: The automated interpretation of clinical electroencephalograms (EEGs) using artificial intelligence (AI) holds the potential to bridge the treatment gap in resource-limited settings and reduce the workload at specialized centers. However, to facilitate broad clinical implementation, it is essential to establish generalizability across diverse patient populations and equipment. We assessed whether SCORE-AI demonstrates diagnostic accuracy comparable to that of experts when applied to a geographically different patient population, recorded with distinct EEG equipment and technical settings.

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Clinical Reasoning: Hyperventilation-Induced Alternating Hemiplegia With Concomitant Hemispheric EEG Slowing in a 7-Year-Old Girl With Headache.

Neurology

September 2024

From the Innovation Biomedicine Section (J.P., A.C., G.C., D.F.), Department of Engineering for Innovation Medicine, University of Verona; UOC Neuropsichiatria Infantile (J.P., R.D.C., S.S., A.C., T.L.B., G.C., E.F., E.F., D.F.), Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata, Verona, Italy; Dipartimento di Neuroradiologia (A.B., M.P.), Azienda Ospedaliera Universitaria Integrata Verona, Ospedale Civile Maggiore, Borgo Trento, Verona; Department of Neuroscience and Surgery of the Nervous System (A.L.), Papa Giovanni XXIII Hospital, Bergamo; Neuropsichiatria Infantile (F.P.), IRCCS "Sacro Cuore-Don Calabria" Hospital, Negrar, Verona; and Center for Research on Epilepsies in Pediatric Age (CREP) (G.C., E.F., E.F., B.D.B., D.F.), Verona, Italy.

Article Synopsis
  • A 7-year-old girl with a history of headaches experienced unusual neurological symptoms after episodes of hyperventilation, including aphasia and weakness on one side of her body.
  • Despite her family history of migraines and seizures, her neurologic exam remained normal, but EEG tests showed abnormal brain wave patterns linked to her symptoms.
  • The case suggests an important link between hyperventilation and rare cerebrovascular disorders, emphasizing the need for thorough EEG analysis in diagnosing such conditions.
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Gray matter heterotopia (GMH) is caused by abnormal neuronal migration during brain development. Subcortical band heterotopia (SBH), or double cortex, is a rare variant of GMH that mainly affects female patients with epilepsy (PWE) with different degrees of mental retardation. We present the case of a 25-year-old woman who was admitted to the neurology department of our tertiary hospital with generalized tonic-clonic seizures.

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We report three sisters with self-limited familial infantile epilepsy, caused by a mutation in proline-rich transmembrane protein2. Self-limited familial infantile epilepsy has been established as a distinct epileptic syndrome characterized by focal seizures in clusters of infantile-onset. The seizure types of our cases were focal with or without secondary generalization.

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Objectives: This study aimed to evaluate seizure semiology, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic findings, as well as treatment choices in Rett syndrome (RTT).

Methods: A retrospective analysis was conducted on one hundred and twenty cases diagnosed with RTT with a genetic mutation. Data were obtained from nine participating centers.

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