122 results match your criteria Normal EEG Variants


ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

J Neurol 2018 Dec 4. Epub 2018 Dec 4.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.

Autosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in the ANO10 gene. The disease is characterized by slowly progressive spastic ataxia variably associated with motor neuron involvement, epilepsy, and cognitive decline. We performed mutational screening in 80 patients with sporadic or autosomal recessive adult-onset ataxia. Read More

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http://link.springer.com/10.1007/s00415-018-9141-z
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http://dx.doi.org/10.1007/s00415-018-9141-zDOI Listing
December 2018
3 Reads

Electrographic spikes are common in wildtype mice.

Epilepsy Behav 2018 Dec 3;89:94-98. Epub 2018 Nov 3.

F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America. Electronic address:

High-voltage rhythmic electroencephalographic (EEG) spikes have been recorded in wildtype (WT) rats during periods of light slow-wave sleep and passive wakefulness. The source of this activity is unclear but has been attributed to either an inherent form of absence epilepsy or a normal feature of rodent sleep EEG. In contrast, little is known about epileptiform spikes in WT mice. Read More

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http://dx.doi.org/10.1016/j.yebeh.2018.09.003DOI Listing
December 2018
1 Read
2.260 Impact Factor

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

Pediatr Neurol 2018 Oct 7;87:48-56. Epub 2018 May 7.

Departments of Neurology and Pediatrics, University of California San Francisco, San Francisco, California. Electronic address:

Background: No large-scale studies have specifically evaluated the outcomes of infantile spasms (IS) of unknown cause, previously known as cryptogenic or idiopathic. The Epilepsy Phenome/Genome Project aimed to characterize IS of unknown cause by phenotype and genotype analysis.

Methods: We undertook a retrospective multicenter observational cohort of 133 individuals within the Epilepsy Phenome/Genome Project database met criteria for IS of unknown cause with at least six months of follow-up data. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183034
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.04.012DOI Listing
October 2018
10 Reads

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Genet Med 2018 Aug 31. Epub 2018 Aug 31.

UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.

Purpose: Developmental and epileptic encephalopathies (DEEs) are severe clinical conditions characterized by stagnation or decline of cognitive and behavioral abilities preceded, accompanied or followed by seizures. Because DEEs are clinically and genetically heterogeneous, next-generation sequencing, especially exome sequencing (ES), is becoming a first-tier strategy to identify the molecular etiologies of these disorders.

Methods: We combined ES analysis and international data sharing. Read More

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http://dx.doi.org/10.1038/s41436-018-0143-0DOI Listing
August 2018
16 Reads

SYT1-associated neurodevelopmental disorder: a case series.

Brain 2018 Sep;141(9):2576-2591

Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Wellcome Trust / MRC Building, Hills Road, Cambridge, UK.

Synaptotagmin 1 (SYT1) is a critical mediator of fast, synchronous, calcium-dependent neurotransmitter release and also modulates synaptic vesicle endocytosis. This paper describes 11 patients with de novo heterozygous missense mutations in SYT1. All mutations alter highly conserved residues, and cluster in two regions of the SYT1 C2B domain at positions Met303 (M303K), Asp304 (D304G), Asp366 (D366E), Ile368 (I368T) and Asn371 (N371K). Read More

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http://dx.doi.org/10.1093/brain/awy209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113648PMC
September 2018
19 Reads

Small sharp spikes as EEG markers of mesiotemporal lobe epilepsy.

Clin Neurophysiol 2018 Sep 28;129(9):1796-1803. Epub 2018 Jun 28.

Department of Neurology, University of Chicago, USA.

Objective: Mesial temporal lobe epilepsy (mTLE) is the most common type of focal epilepsy, but often lacks scalp EEG correlates. We ask if hippocampal epileptiform discharges that are characteristic of mTLE are associated with small sharp spikes (SSS) recorded on scalp EEG. SSS are considered benign waveforms, so are not currently used as markers of epilepsy. Read More

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http://dx.doi.org/10.1016/j.clinph.2018.06.011DOI Listing
September 2018
11 Reads

Prevalence of benign epileptiform variants during initial EEG examination in French military aircrew.

Neurophysiol Clin 2018 Jun 21;48(3):171-179. Epub 2018 Apr 21.

Service de neurophysiologie clinique, centre hospitalier Sainte-Anne, 1, rue Cabanis, 75014 Paris, France; Université Paris-Descartes, 12, rue de l'école de médecine, 75006 Paris, France; Inserm UMR S894, centre de psychiatrie et neurosciences, rue de la Santé, 75014 Paris, France.

Introduction: In France, a systematic EEG is performed during initial examination in military aircrew applicants, which may provide an estimation of the prevalence of benign epileptiform variants in healthy adults.

Methods: We analyzed standard EEG (21 scalp electrodes, 20minutes, 400Hz sampling rate) of military aircrew applicants examined in the French Main Aeromedical Center in 2016. EEGs were analyzed using both bipolar and referential montages. Read More

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http://dx.doi.org/10.1016/j.neucli.2018.04.001DOI Listing
June 2018
4 Reads

Positive interictal epileptiform discharges in adults: A case series of a rare phenomenon.

Clin Neurophysiol 2018 May 8;129(5):952-955. Epub 2018 Feb 8.

Epilepsy Center, Department of Neurology, Ludwig Maximilians University, Munich, Germany.

Objective: Positive interictal epileptiform discharges (IEDs) are rarely recorded from surface EEG, due to the orientation of the cortex and its neurons. Their frequency and significance in adults is unknown, and has only been studied as a phenomenon of the neonatal period and childhood. We aimed to evaluate the frequency and characteristics of positive epileptiform discharges in a large cohort of patients. Read More

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http://dx.doi.org/10.1016/j.clinph.2018.01.059DOI Listing
May 2018
2 Reads

Characterization of a variant associated with autism, intellectual disability, and epilepsy.

Neurol Genet 2017 Dec 11;3(6):e198. Epub 2017 Dec 11.

Department of Pharmacology (J.D.C., C.G.V., A.L.G., J.A.K.), Northwestern University Feinberg School of Medicine, Chicago, IL; Human Genome and Stem Cell Research Center (F.K.), Biosciences Institute, University of Sao Paulo, Brazil; and Mendelics Análise Genomica (F.K.), Sao Paulo, Brazil.

Objective: To perform functional characterization of a potentially pathogenic variant identified by clinical exome sequencing of a proband with a neurodevelopmental disorder that included epilepsy and centrotemporal spikes on EEG.

Methods: Whole-exome sequencing identified the variant c.595A>T (p. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733249PMC
December 2017
3 Reads

Methodological standards and interpretation of video-electroencephalography in adult control rodents. A TASK1-WG1 report of the AES/ILAE Translational Task Force of the ILAE.

Epilepsia 2017 11;58 Suppl 4:10-27

Brain Injury and Epilepsy Research Laboratory, Allegheny Health Network Research Institute, Allegheny General Hospital, Pittsburgh, Pennsylvania, U.S.A.

In vivo electrophysiological recordings are widely used in neuroscience research, and video-electroencephalography (vEEG) has become a mainstay of preclinical neuroscience research, including studies of epilepsy and cognition. Studies utilizing vEEG typically involve comparison of measurements obtained from different experimental groups, or from the same experimental group at different times, in which one set of measurements serves as "control" and the others as "test" of the variables of interest. Thus, controls provide mainly a reference measurement for the experimental test. Read More

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http://dx.doi.org/10.1111/epi.13903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5679281PMC
November 2017
20 Reads

A novel de novo dominant mutation in associated with mitochondrial myopathy.

J Med Genet 2017 Dec 27;54(12):815-824. Epub 2017 Oct 27.

Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute Besta, Milan, Italy.

Background: Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, metabolic acidosis and rhabdomyolysis may occur. So far, this disease has been molecularly defined only in Swedish patients, all homozygous for a deep intronic splicing affecting mutation in encoding a scaffold protein for the assembly of iron-sulfur (Fe-S) clusters. Read More

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http://dx.doi.org/10.1136/jmedgenet-2017-104822DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740555PMC
December 2017
15 Reads

Functional indexes of reactive cognitive control: ERPs in cued go/no-go tasks.

Psychophysiology 2017 Dec 3;54(12):1899-1915. Epub 2017 Aug 3.

Department of Psychology, Division of Neuropsychology, University of Zurich, Zurich, Switzerland.

We aimed to determine the functional meaning of latent (hidden) components decomposed from ERPs, in the context of a go/no-go paradigm. To accomplish this, we used a new group blind source separation method, based on joint diagonalization of covariance matrices of ERPs. Four variants of a frequently used go/no-go paradigm were designed, in which operations of reactive cognitive control, such as conflict detection and action inhibition, were independently manipulated. Read More

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http://dx.doi.org/10.1111/psyp.12960DOI Listing
December 2017
1 Read

First reported Chinese case of guanidinoacetate methyltransferase deficiency in a 4-year-old child.

Clin Chim Acta 2017 Jul 22;470:42-45. Epub 2017 Apr 22.

Department of Neurology, Children's Hospital of Fudan University, Research Institute of Brain Science, Shanghai, China.

Guanidinoacetate methyltransferase (GAMT) deficiency is a rare inherited disorder characterized by creatine (Cr) depletion and guanidinoacetate (GAA) accumulation in body fluids. We report the first identified Chinese case, diagnosed in a 4-year-old girl with onset of global developmental. Low Cr and high GAA levels were detected in her serum and urine, and low Cr level in her brain. Read More

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http://dx.doi.org/10.1016/j.cca.2017.04.013DOI Listing
July 2017
46 Reads

Age-dependent decrease of GAD65/67 mRNAs but normal densities of GABAergic interneurons in the brain regions of Shank3-overexpressing manic mouse model.

Neurosci Lett 2017 05 8;649:48-54. Epub 2017 Apr 8.

Department of Neuroscience, College of Medicine, Korea University, Seoul 02841, South Korea; Department of Biomedical Sciences, College of Medicine, Korea University, Seoul 02841, South Korea. Electronic address:

Dysfunction of inhibitory GABAergic interneurons is considered a major pathophysiological feature of various neurodevelopmental and neuropsychiatric disorders. The variants of SHANK3 gene, encoding a core scaffold protein of the excitatory postsynapse, have been associated with numerous brain disorders. It has been suggested that abnormalities of GABAergic interneurons could contribute to the SHANK3-related disorders, but the limitation of these studies is that they used mainly Shank3 knock-out mice. Read More

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http://dx.doi.org/10.1016/j.neulet.2017.04.016DOI Listing
May 2017
2 Reads

Genetic regulation of gene expression in the epileptic human hippocampus.

Hum Mol Genet 2017 05;26(9):1759-1769

Department of Molecular & Clinical Pharmacology, University of Liverpool, Liverpool L69 3GL, UK.

Epilepsy is a serious and common neurological disorder. Expression quantitative loci (eQTL) analysis is a vital aid for the identification and interpretation of disease-risk loci. Many eQTLs operate in a tissue- and condition-specific manner. Read More

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http://dx.doi.org/10.1093/hmg/ddx061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411756PMC
May 2017
6 Reads

Can developmental venous anomalies cause seizures?

J Neurol 2017 Dec 17;264(12):2495-2505. Epub 2017 Mar 17.

Neurology Department, Hôpital Bicêtre, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpitaux Universitaires Paris-Sud, 78 Rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France.

Developmental venous anomalies (DVAs) are congenital anatomical variants of normal venous drainage of normal brain. Although DVAs are often discovered on the occasion of a seizure, their involvement in epilepsy is poorly studied. Our objective was to determine whether DVA can cause seizures, in the cases where there is no associated lesion, including no cavernoma or dysplasia. Read More

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http://dx.doi.org/10.1007/s00415-017-8456-5DOI Listing
December 2017
2 Reads

De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.

Epilepsia 2017 02 13;58(2):e26-e30. Epub 2017 Jan 13.

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

Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by heterogeneous phenotypes ranging from mild disorders such as febrile seizures to epileptic encephalopathies (EEs) such as Dravet syndrome (DS). Although DS often occurs with de novo SCN1A pathogenic variants, milder GEFS+ spectrum phenotypes are associated with inherited pathogenic variants. We identified seven cases with non-EE GEFS+ phenotypes and de novo SCN1A pathogenic variants, including a monozygotic twin pair. Read More

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http://dx.doi.org/10.1111/epi.13649DOI Listing
February 2017
7 Reads

Quantitative EEG during normal aging: association with the Alzheimer's disease genetic risk variant in PICALM gene.

Neurobiol Aging 2017 03 20;51:177.e1-177.e8. Epub 2016 Dec 20.

Vavilov Institute of General Genetics, RAS, Moscow, Russia; Center of Brain Neurobiology and Neurogenetics, Institute of Cytogenetics and Genetics RAMS, Novosibirsk, Russia; Center of Genetics and Genetic Technologies, Lomonosov Moscow State University, Moscow, Russia; Department of Psychiatry, Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Worcester, MA, USA. Electronic address:

Genome-wide association studies have identified novel risk variants for Alzheimer's disease (AD). Among these, a gene carrying one of the highest risks for AD is PICALM. The PICALM rs3851179 A allele is thought to have a protective effect, whereas the G allele appears to confer risk for AD. Read More

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.12.010DOI Listing
March 2017
17 Reads

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

Mol Genet Metab Rep 2017 Mar 1;10:1-4. Epub 2016 Dec 1.

Hospital for Children and Adolescents, Centre for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospitals, University of Leipzig, Liebigstraße 20 a, 04103 Leipzig, Germany.

Background: Lysosomal storage diseases (LSD) often manifest with cherry red macular spots. Diagnosis is based on clinical features and specific biochemical and enzymatic patterns. In uncertain cases, genetic testing with next generation sequencing can establish a diagnosis, especially in milder or atypical phenotypes. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22144269163007
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http://dx.doi.org/10.1016/j.ymgmr.2016.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137178PMC
March 2017
22 Reads

De novo mutation in 2 patients with neonatal-onset epilepsy.

Neurol Genet 2016 Dec 10;2(6):e120. Epub 2016 Nov 10.

Centre for Applied Neurogenetics (CAN), Department of Medical Genetics (I.G., M.B.M., D.M.E., M.J.F.), Division of Neurology (L.H., E.B.T., S.E.B., M.B.C., M.D.), Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, Canada; Department of Neurology (E.M.B.), University of Alabama at Birmingham; HudsonAlpha Institute for Biotechnology (M.L.T., G.M.C.), Huntsville, AL; Department of Medical Genetics (S.A., M.I.V.A.), University of British Columbia, Vancouver, Canada; and Departments of Pathology and Laboratory Medicine (T.N.N.), University of British Columbia and BC Children's Hospital, Vancouver, Canada.

Objective: We describe 2 additional patients with early-onset epilepsy with a de novo mutation.

Methods: Whole-exome sequencing was performed in 2 unrelated patients with early-onset epilepsy and their unaffected parents. Genetic variants were assessed by comparative trio analysis. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113095PMC
December 2016
13 Reads

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.

Epilepsia 2016 Oct 24;57(10):1531-1545. Epub 2016 Aug 24.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.

We performed a systematic review of the clinical, molecular, and biochemical features of polymerase gamma (POLG)-related epilepsy and current evidence on seizure management. Patients were identified from a combined electronic search of articles using Ovid Medline and Scopus databases, published from January 2000 to January 2015. Only patients with a confirmed genetic diagnosis of POLG mutations were considered. Read More

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http://dx.doi.org/10.1111/epi.13508DOI Listing
October 2016
39 Reads

Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy.

Neurobiol Dis 2016 Nov 28;95:1-11. Epub 2016 Jun 28.

The Jackson Laboratory, Bar Harbor, ME 04609, United States.

Dynamin 1 is a large neuron-specific GTPase involved in the endocytosis and recycling of pre-synaptic membranes and synaptic vesicles. Mutations in the gene encoding dynamin 1 (DNM1) underlie two epileptic encephalopathy syndromes, Lennox-Gastaut Syndrome and Infantile Spasms. Mice homozygous for the Dnm1 "fitful" mutation, a non-synonymous coding variant in an alternatively spliced exon of Dnm1 (exon 10a; isoform designation: Dnm1a(Ftfl)) have an epileptic encephalopathy-like disorder including lethal early onset seizures, locomotor and neurosensory deficits. Read More

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http://dx.doi.org/10.1016/j.nbd.2016.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010951PMC
November 2016
4 Reads

An effective automated method for teaching EEG interpretation to neurology residents.

Seizure 2016 Aug 24;40:10-2. Epub 2016 May 24.

Veterans Administration Boston Healthcare System (VABHS) Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Massachusetts General Hospital, Boston, MA, USA. Electronic address:

Purpose: EEG interpretation is a fundamental procedural skill in the practice of neurology, but there is no standardized method for educating residents. One-to-one instruction is commonly employed, but is time intensive for supervising physicians, provides arbitrary exposure to normal and abnormal EEG patterns, and often lacks immediate and detailed feedback on performance. Here, we investigated the effectiveness of a novel automated program to assist in educating neurology residents in EEG interpretation. Read More

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http://dx.doi.org/10.1016/j.seizure.2016.05.009DOI Listing
August 2016
8 Reads

Early-life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants.

Epileptic Disord 2016 Jun;18(2):195-200

Department of Pediatrics, Divisions of Neurology & Epilepsy, Ann & Robert H. Lurie Children's Hospital of Chicago, and the Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

Advances in genetic testing have led to the identification of increasing numbers of novel gene mutations that underlie infantile-onset epileptic encephalopathies. Recently, a mutagenesis screen identified a novel gene, SZT2, with no known protein function that has been linked to epileptogenesis in mice. Thus far, two clinical reports have identified children with different recessive mutations in SZT2 and varying clinical phenotypes. Read More

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http://dx.doi.org/10.1684/epd.2016.0828DOI Listing
June 2016
4 Reads

Automated Identification of Abnormal Adult EEGs.

IEEE Signal Process Med Biol Symp 2015 Dec;2015

Neural Engineering Data Consortium, Temple University Philadelphia, Pennsylvania, USA.

The interpretation of electroencephalograms (EEGs) is a process that is still dependent on the subjective analysis of the examiners. Though interrater agreement on critical events such as seizures is high, it is much lower on subtler events (e.g. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4868184PMC
http://dx.doi.org/10.1109/SPMB.2015.7405423DOI Listing
December 2015
5 Reads

EEG in Sarcoidosis Patients Without Neurological Findings.

Clin EEG Neurosci 2017 Jan 22;48(1):54-59. Epub 2016 Apr 22.

School of Medicine, Marmara University, Department of Neurology, Istanbul, Turkey.

Sarcoidosis is a multisystem granulomatous disease affecting nervous system in 5% to 10% of patients. Magnetic resonance imaging (MRI) is accepted as the most sensitive method for detecting neurosarcoidosis. However, the most common findings in MRI are the nonspecific white matter lesions, which may be unrelated to sarcoidosis and can occur because of hypertension, diabetes mellitus, smoking, and other inflammatory or infectious disorders, as well. Read More

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http://dx.doi.org/10.1177/1550059416646651DOI Listing
January 2017
50 Reads

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

Eur J Hum Genet 2016 11 30;24(11):1578-1583. Epub 2016 Mar 30.

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital 'Spedali Civili', Brescia, Italy.

ASAH1 gene encodes for acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes. ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (SMA-PME), phenotypically characterized by childhood onset of proximal muscle weakness and atrophy due to spinal motor neuron degeneration followed by occurrence of severe and intractable myoclonic seizures and death in the teenage years. We studied two subjects, a 30-year-old pregnant woman and her 17-year-old sister, affected with a very slowly progressive non-5q SMA since childhood. Read More

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http://dx.doi.org/10.1038/ejhg.2016.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110045PMC
November 2016
15 Reads
2 Citations
4.350 Impact Factor

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

Am J Med Genet A 2016 06 26;170(6):1585-9. Epub 2016 Mar 26.

Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.

Variants in the X-linked gene PCDH19 are associated with early infantile epileptic encephalopathy-9. This unusual condition spares hemizygous males except for psychiatric and behavioral abnormalities, and for this reason is also known as female limited epilepsy. Some cases are due to de novo PCDH19 variants, but may also be paternally inherited. Read More

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http://dx.doi.org/10.1002/ajmg.a.37617DOI Listing
June 2016
4 Reads

Slow-Wave Oscillations in Awake Healthy Subjects: Methodological and Physiological Considerations.

J Clin Neurophysiol 2016 Aug;33(4):367-72

*Department of Neuroscience and Biomedical Engineering, School of Science, Aalto University, Espoo, Finland; †Elekta Oy, Helsinki, Finland; ‡MEG Core, Aalto Neuroimaging, Aalto University, Espoo, Finland; and §Departments of Clinical Neurosciences and Neurology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

Purpose: Detection of pathologic slow-wave oscillations (0.5-7 Hz) in awake subjects has gained increasing interest in clinical diagnostics. Their significance, however, is hampered by the occasional presence of slow waves in healthy subjects, as well as the abundance of artefactual signals at low measurement frequencies. Read More

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http://dx.doi.org/10.1097/WNP.0000000000000251DOI Listing
August 2016
8 Reads

Representation and Processing of Lexical Tone and Tonal Variants: Evidence from the Mismatch Negativity.

PLoS One 2015 1;10(12):e0143097. Epub 2015 Dec 1.

Leiden University Center for Linguistics (LUCL) & Leiden Institute for Brain and Cognition (LIBC), Leiden, The Netherlands.

Pronunciation variation is ubiquitous in the speech signal. Different models of lexical representation have been put forward to deal with speech variability, which differ in the level as well as the nature of mental representation. We present the first mismatch negativity (MMN) study investigating the effect of allophonic variation on the mental representation and neural processing of lexical tones. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0143097PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666592PMC
June 2016
23 Reads

The Basis for Language Acquisition: Congenitally Deaf Infants Discriminate Vowel Length in the First Months after Cochlear Implantation.

J Cogn Neurosci 2015 Dec 9;27(12):2427-41. Epub 2015 Sep 9.

Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany.

One main incentive for supplying hearing impaired children with a cochlear implant is the prospect of oral language acquisition. Only scarce knowledge exists, however, of what congenitally deaf children actually perceive when receiving their first auditory input, and specifically what speech-relevant features they are able to extract from the new modality. We therefore presented congenitally deaf infants and young children implanted before the age of 4 years with an oddball paradigm of long and short vowel variants of the syllable /ba/. Read More

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http://dx.doi.org/10.1162/jocn_a_00868DOI Listing
December 2015
11 Reads

EEG in children, in the laboratory or at the patient's bedside.

Neurophysiol Clin 2015 Mar 15;45(1):65-74. Epub 2015 Jan 15.

Service de neurophysiologie clinique, hôpital Roger-Salengro, CHRU, 59037 Lille cedex, France.

In pediatrics, EEG recordings are performed on patients from the neonatal period up to young adults. This means adapting techniques to many different conditions, concerning not only the patient's age, the need for asepsis and the patient's behavior, but also the environment (e.g. Read More

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http://dx.doi.org/10.1016/j.neucli.2014.11.008DOI Listing
March 2015
11 Reads

A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans.

Sleep 2014 Aug 1;37(8):1327-36. Epub 2014 Aug 1.

Center for Sleep and Circadian Neurobiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA ; Division of Sleep Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.

Study Objectives: Earlier work described a mutation in DEC2 also known as BHLHE41 (basic helix-loophelix family member e41) as causal in a family of short sleepers, who needed just 6 h sleep per night. We evaluated whether there were other variants of this gene in two well-phenotyped cohorts.

Design: Sequencing of the BHLHE41 gene, electroencephalographic data, and delta power analysis and functional studies using cell-based luciferase. Read More

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http://dx.doi.org/10.5665/sleep.3924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096202PMC
August 2014
10 Reads

Mimickers of generalized spike and wave discharges.

Neurodiagn J 2014 Jun;54(2):156-62

Overinterpretation of benign EEG variants is a common problem that can lead to the misdiagnosis of epilepsy. We review four normal patterns that mimic generalized spike and wave discharges: phantom spike-and-wave, hyperventilation hypersynchrony, hypnagogic/ hypnopompic hypersynchrony, and mitten patterns. Read More

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June 2014
11 Reads

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Ann Neurol 2014 Oct 19;76(4):581-93. Epub 2014 Sep 19.

Department of Molecular Biology, Cell Biology, and Biochemistry and Laboratory for Molecular Medicine, Institute for Brain Science, Brown University, Providence, RI; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University, East Providence, RI.

Objective: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+) /H(+) exchanger 6 (NHE6). We aimed to determine the diagnostic criteria and mutational spectrum for CS.

Methods: Twelve independent pedigrees (14 boys, age = 4-19 years) with mutations in NHE6 were administered standardized research assessments, and mutations were characterized. Read More

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http://dx.doi.org/10.1002/ana.24225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4304796PMC
October 2014
8 Reads

Genetic psychophysiology: advances, problems, and future directions.

Authors:
Andrey P Anokhin

Int J Psychophysiol 2014 Aug 13;93(2):173-97. Epub 2014 Apr 13.

Washington University School of Medicine, Department of Psychiatry, 660 S. Euclid, Box 8134, St. Louis, MO 63110, United States. Electronic address:

This paper presents an overview of historical advances and the current state of genetic psychophysiology, a rapidly developing interdisciplinary research linking genetics, brain, and human behavior, discusses methodological problems, and outlines future directions of research. The main goals of genetic psychophysiology are to elucidate the neural pathways and mechanisms mediating genetic influences on cognition and emotion, identify intermediate brain-based phenotypes for psychopathology, and provide a functional characterization of genes being discovered by large association studies of behavioral phenotypes. Since the initiation of this neurogenetic approach to human individual differences in the 1970s, numerous twin and family studies have provided strong evidence for heritability of diverse aspects of brain function including resting-state brain oscillations, functional connectivity, and event-related neural activity in a variety of cognitive and emotion processing tasks, as well as peripheral psychophysiological responses. Read More

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http://dx.doi.org/10.1016/j.ijpsycho.2014.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077936PMC
August 2014
4 Reads

Regulation of membrane excitability: a convergence on voltage-gated sodium conductance.

Mol Neurobiol 2015 Feb 29;51(1):57-67. Epub 2014 Mar 29.

Faculty of Life Sciences, University of Manchester, Oxford Road, Manchester, UK.

The voltage-gated sodium channel (Nav) plays a key role in regulation of neuronal excitability. Aberrant regulation of Nav expression and/or function can result in an imbalance in neuronal activity which can progress to epilepsy. Regulation of Nav activity is achieved by coordination of a multitude of mechanisms including RNA alternative splicing and translational repression. Read More

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http://dx.doi.org/10.1007/s12035-014-8674-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4309913PMC
February 2015
4 Reads

West syndrome in South Iran: electro-clinical manifestations.

Iran J Child Neurol 2013 ;7(3):40-4

Neurosciences Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Objective: We aimed to determine the clinical and electroencephalographic (EEG) characteristics of the patients with West syndrome (WS) in south Iran.

Materials & Methods: In this retrospective study, all patients with a clinical diagnosis of WS were recruited in the outpatient epilepsy clinic at Shiraz University of Medical Sciences between September 2008 and May 2012. Age, gender, age at seizure onset, seizure type(s), epilepsy risk factors, EEG and imaging studies of all patients were registered routinely. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943065PMC
March 2014
2 Reads

Atypical phenotype in two patients with LAMA2 mutations.

Neuromuscul Disord 2014 May 25;24(5):419-24. Epub 2014 Jan 25.

Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal; Laboratório de Neuropatologia, Serviço de Neurologia, Hospital de Santa Maria, CHLN, Av. Professor Egas Moniz, 1649-035 Lisboa, Portugal.

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients underwent clinical, histopathological, imaging and genetic studies. Read More

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http://dx.doi.org/10.1016/j.nmd.2014.01.004DOI Listing
May 2014
3 Reads

A mouse model that recapitulates cardinal features of the 15q13.3 microdeletion syndrome including schizophrenia- and epilepsy-related alterations.

Biol Psychiatry 2014 Jul 3;76(2):128-37. Epub 2013 Oct 3.

Neuroscience Research DK, H. Lundbeck A/S, Valby, Denmark. Electronic address:

Background: Genome-wide scans have uncovered rare copy number variants conferring high risk of psychiatric disorders. The 15q13.3 microdeletion is associated with a considerably increased risk of idiopathic generalized epilepsy, intellectual disability, and schizophrenia. Read More

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http://dx.doi.org/10.1016/j.biopsych.2013.08.014DOI Listing
July 2014
7 Reads

Infantile spasms.

Handb Clin Neurol 2013 ;111:611-8

Peter Kellaway Section of Neurophysiology, Department of Neurology, Baylor College of Medicine, Houston, TX, USA; Michael E. DeBakey VA Medical Center, Houston, TX, USA. Electronic address:

Infantile spasms are a unique disorder of infancy and early childhood. The average age at onset of infantile spasms is 6 months and the average incidence of the disorder is approximately 0.31 per 1000 live births. Read More

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00063-4DOI Listing
April 2014
5 Reads

An expectation-maximization algorithm based Kalman smoother approach for single-trial estimation of event-related potentials.

Conf Proc IEEE Eng Med Biol Soc 2012 ;2012:6534-8

Center for Biomedical Engineering, UTM, 81310 Skudai, Johor, Malaysia.

This paper applies an expectation-maximization (EM) based Kalman smoother (KS) approach for single-trial event-related potential (ERP) estimation. Existing studies assume a Markov diffusion process for the dynamics of ERP parameters which is recursively estimated by optimal filtering approaches such as Kalman filter (KF). However, these studies only consider estimation of ERP state parameters while the model parameters are pre-specified using manual tuning, which is time-consuming for practical usage besides giving suboptimal estimates. Read More

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http://dx.doi.org/10.1109/EMBC.2012.6347491DOI Listing
September 2013
3 Reads

Basic mechanisms of catastrophic epilepsy -- overview from animal models.

Brain Dev 2013 Sep 11;35(8):748-56. Epub 2013 Jan 11.

Saul R. Korey Department of Neurology, Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Kennedy Center Rm 306, Bronx NY 10461, USA.

Infantile spasms are age-specific seizures of infantile epileptic encephalopathies that are usually associated with poor epilepsy and neurodevelopmental outcomes. The current treatments are not always effective and may be associated with significant side effects. Various mechanisms have been proposed as pathogenic for infantile spasms, including cortical or brainstem dysfunction, disruption of normal cortical-subcortical communications, genetic defects, inflammation, stress, developmental abnormalities. Read More

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http://dx.doi.org/10.1016/j.braindev.2012.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3644363PMC
September 2013
2 Reads

Normal EEG in childhood: from neonates to adolescents.

Neurophysiol Clin 2013 Jan 30;43(1):35-65. Epub 2012 Oct 30.

Service des explorations fonctionnelles, neurophysiologie clinique, hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France; Inserm, U663, université Paris Descartes, Paris, France.

The important EEG changes that occur throughout childhood are a major challenge for the neurophysiologist. These reflect brain maturation, which is especially fast during the first year of life. This article describes normal EEG features and variants, characteristic patterns of development, as well as some patterns that are unusual for age, from the neonatal period to adolescence. Read More

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http://dx.doi.org/10.1016/j.neucli.2012.09.091DOI Listing
January 2013
15 Reads

Normal "suspicious" EEG.

Authors:
William O Tatum

Neurology 2013 Jan;80(1 Suppl 1):S4-11

Department of Neurology, Mayo College of Medicine, Mayo Clinic, Jacksonville, FL, USA.

The EEG is a unique measure of electrical brain function and is widely used in patients with seizures. Many normal variants and variations of normal EEG have a predilection for the temporal lobe and mimic epileptiform discharges. The high prevalence of temporal lobe epilepsy and the propensity for normal variants to occupy the temporal lobe may result in an undesired bias, leading to misidentification of normal waveforms. Read More

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http://dx.doi.org/10.1212/WNL.0b013e31827974dfDOI Listing
January 2013
22 Reads