153 results match your criteria Normal EEG Variants


Interpretation of the Intracranial Stereoelectroencephalography Signal.

Neurosurg Clin N Am 2020 Jul 25;31(3):421-433. Epub 2020 Apr 25.

Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, 429A Thier, Boston, MA 02114, USA. Electronic address:

The intracranial electroencephalogram (iEEG) is essential in decision making for epilepsy surgery. Although localization of epileptogenic brain regions by means of iEEG has been the gold standard for surgical decision-making for more than 70 years, established guidelines for what constitutes genuine iEEG epileptic activity and what is normal brain activity are not available. This review provides a summary of the current state of knowledge and understanding on normal iEEG entities and variants, the effects of sleep on regional and lobar iEEG, iEEG patterns of interictal and ictal epileptic activity and their relation to well-described epileptogenic pathologies and surgical outcome. Read More

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http://dx.doi.org/10.1016/j.nec.2020.03.007DOI Listing

[Pitfalls in Reading EEG for Temporal Lobe Epilepsy: The "Southern-hemisphere" Spike and Normal Variants].

Brain Nerve 2020 Apr;72(4):425-436

Division of Neurology, Kobe University Graduate School of Medicine.

Electroencephalogram (EEG) reading in clinical settings commonly uses three montage types: referential montage, bipolar montage, and average montage. Since each montage type has its advantages and disadvantages, there is no single best montage. To correctly read EEG, it is essential 1) to use the montage appropriate for the focus and distribution of epileptic activity and 2) to correctly recognize EEG waveforms that are often misdiagnosed as epileptic activity. Read More

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http://dx.doi.org/10.11477/mf.1416201541DOI Listing

Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.

Brain Behav 2020 May 31;10(5):e01597. Epub 2020 Mar 31.

Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, China.

Background: Point and copy number variant mutations in the PRRT2 gene have been identified in a variety of paroxysmal disorders and different types of epilepsy. In this study, we analyzed the phenotypes and PRRT2-related mutations in Chinese epilepsy children.

Methods: A total of 492 children with epilepsy were analyzed by whole exome sequencing (WES) and low-coverage massively parallel CNV sequencing (CNV-seq) to find the single nucleotide variants and copy number variations (CNVs). Read More

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http://dx.doi.org/10.1002/brb3.1597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218244PMC

Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background.

Ital J Pediatr 2020 Mar 27;46(1):36. Epub 2020 Mar 27.

Child Neuropsychiatric Unit - Epilepsy Center, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Via di Rudinì 8, 20142, Milan, Italy.

Background: Seizures in individuals affected by tuberous sclerosis complex (TSC) commonly develop in the first year of life, are often preceded by a progressive deterioration of the electroencephalogram (EEG), and likely influence developmental outcome. Although early diagnosis of TSC has offered a tremendous opportunity to monitor affected patients before seizure onset, reports of the neurological manifestations of TSC in infants before seizure onset are still scarce. Here we describe early EEG activity, clinical and genetic data and developmental assessment in a group of TSC infants, with the aim of identifying possible prognostic factors for neurodevelopmental outcome. Read More

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http://dx.doi.org/10.1186/s13052-020-0801-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099780PMC

Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).

Clin Neurophysiol 2020 May 13;131(5):1030-1039. Epub 2020 Feb 13.

Danish Epilepsy Centre, Dianalund, Denmark; University of Copenhagen, Copenhagen, Denmark. Electronic address:

Objective: To investigate the clinical and EEG features of Encephalopathy with Status Epilepticus during slow Sleep (ESES) related to CNKSR2 pathogenic variants.

Methods: Detailed clinical history, repeated wakefulness/overnight sleep EEGs, brain MRI were collected in five patients, including one female, with CNKSR2-related ESES.

Results: Neurodevelopment in infancy was normal in two patients, delayed in three. Read More

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http://dx.doi.org/10.1016/j.clinph.2020.01.020DOI Listing

[Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].

Zhonghua Er Ke Za Zhi 2020 Feb;58(2):123-128

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

To explore the clinical characteristics and genotyping results of childhood-onset myoclonus dystonia syndrome caused by SGCE variants. The clinical data of 9 children with SGCE-related myoclonus dystonia syndrome admitted at either the Department of Neurology, Beijing Children's Hospital, Capital Medical University or the Department of Pediatrics, Peking University First Hospital from May 2018 to October 2019 were collected and the patients were followed up. The definite diagnosis was made on the basis of whole exome sequencing and multiple ligation-dependent probe amplification. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2020.02.011DOI Listing
February 2020

[Clinical phenotypes of epilepsy associated with GABRA1 gene variants].

Zhonghua Er Ke Za Zhi 2020 Feb;58(2):118-122

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

To summarize the clinical phenotypes of epilepsy in patients with GABRA1 gene variants. A total of 11 epileptic patients (4 boys and 7 girls) who were treated in the Department of Pediatrics, Peking University First Hospital from March 2016 to July 2019 and detected with GABRA1 gene heterozygous pathogenic variants by targeted next-generation sequencing were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed retrospectively. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2020.02.010DOI Listing
February 2020

EEG based multi-class seizure type classification using convolutional neural network and transfer learning.

Neural Netw 2020 Apr 25;124:202-212. Epub 2020 Jan 25.

Department of Neurosurgery, Maastricht University Medical Center, Maastricht, The Netherlands.

Recognition of epileptic seizure type is essential for the neurosurgeon to understand the cortical connectivity of the brain. Though automated early recognition of seizures from normal electroencephalogram (EEG) was existing, no attempts have been made towards the classification of variants of seizures. Therefore, this study attempts to classify seven variants of seizures with non-seizure EEG through the application of convolutional neural networks (CNN) and transfer learning by making use of the Temple University Hospital EEG corpus. Read More

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http://dx.doi.org/10.1016/j.neunet.2020.01.017DOI Listing

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

Jpn J Ophthalmol 2020 Mar 3;64(2):134-139. Epub 2020 Feb 3.

Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8, 60-806, Poznan, Poland.

Purpose: Genetic analysis of two siblings with complex microphthalmia, with clinically healthy parents.

Study Design: Clinical and experimental.

Methods: The patients underwent a detailed ophthalmic evaluation, including visual acuity, fundus examination, gonioscopy, ultrasound examination, and optical coherence tomography. Read More

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http://dx.doi.org/10.1007/s10384-020-00715-6DOI Listing

Etiology and Clinical Impact of Interictal Periodic Discharges on the Routine Outpatient Scalp EEG.

J Clin Neurophysiol 2020 Jan 2. Epub 2020 Jan 2.

Neurosciences and Mental Health Department, Hospital de Santa Maria, CHLN, Lisbon, Portugal.

Purpose: Periodic discharges (PDs) are common in acute structural or metabolic brain lesions, but their occurrence during follow-up of epileptic patients in an outpatient setting is rare. Aim of this article was to study whether PDs on the routine outpatient scalp EEG of patients with epilepsy, as compared with nonperiodic epileptiform discharges, are associated with drug refractoriness and the decompensation of epilepsy and particular etiologies.

Methods: A retrospective case-control study. Read More

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http://dx.doi.org/10.1097/WNP.0000000000000676DOI Listing
January 2020

Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.

Epilepsia 2019 12;60 Suppl 3:S77-S85

Danish Epilepsy Center, Dianalund, Denmark.

Pathogenic variants in SCN8A have originally been described in patients with developmental and epileptic encephalopathy (DEE). However, recent studies have shown that SCN8A variants can be associated with a broader phenotypic spectrum, including the following: (1) Patients with early onset, severe DEE, developing severe cognitive and motor regression, pyramidal/extrapyramidal signs, and cortical blindness. Severe SCN8A-DEE is characterized by intractable seizures beginning in the first months of life. Read More

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http://dx.doi.org/10.1111/epi.16319DOI Listing
December 2019

SCN1A-related phenotypes: Epilepsy and beyond.

Epilepsia 2019 12;60 Suppl 3:S17-S24

Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute U1163, Paris Descartes University, Paris, France.

SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal channelopathy associated with a wide phenotypic spectrum of epilepsies ranging from genetic epilepsy with febrile seizures plus (GEFS+), to developmental and epileptic encephalopathies (DEEs). SCN1A disorders also result in other diseases such as hemiplegic migraine and autism spectrum disorder (ASD). Read More

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http://dx.doi.org/10.1111/epi.16386DOI Listing
December 2019

Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.

Dev Med Child Neurol 2020 03 18;62(3):315-321. Epub 2019 Nov 18.

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

Aim: To characterize the clinical and genetic characteristics of a large cohort of patients with pyridoxine-dependent epilepsy (PDE).

Method: We retrospectively collected clinical and genetic information of 33 (15 males, 18 females; mean [SD] age 4y 11mo [2y 5mo]; 1y 3mo-10y 4mo) patients with PDE from 31 unrelated families at a single centre.

Results: There were many types of seizures, with focal seizures in 32 cases. Read More

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http://dx.doi.org/10.1111/dmcn.14385DOI Listing

Interictal epileptiform discharges on electroencephalography in children with methylenetetrahydrofolate reductase (MTHFR) polymorphisms.

Neurol Sci 2020 Mar 16;41(3):631-636. Epub 2019 Nov 16.

Department of Pediatric Metabolism, Faculty of Medicine, Mayıs University, Samsun, Turkey.

Objective: Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism. MTHFR C677T and A1298C polymorphisms are best-defined variants of MTHFR that were reported to be associated with epilepsy development. The aim of the study was to determine the incidence of interictal epileptiform discharges on electroencephalography (EEG) in asymptomatic children with C677T and A1298C polymorphisms who had no history of seizure. Read More

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http://dx.doi.org/10.1007/s10072-019-04119-4DOI Listing

Malignant Arrhythmia with Variants of Desmocollin-2 and Desmoplakin Genes.

Int Heart J 2019 Sep 4;60(5):1196-1200. Epub 2019 Sep 4.

Department of Cardiology, Affiliated Nanping First Hospital, Fujian Medical University.

Malignant arrhythmia is a fast cardiac arrhythmia that can lead to a hemodynamic abnormality within a short time, most of which is ventricular tachycardia or ventricular fibrillation (VF), which should be managed in time. Both organic and nonorganic cardiac diseases have the potential to cause malignant arrhythmia. We report a noteworthy case of malignant arrhythmia in a teenager during exercise. Read More

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http://dx.doi.org/10.1536/ihj.18-681DOI Listing
September 2019
3 Reads

SREDA: A Rare but Confusing Benign EEG Variant.

J Clin Neurophysiol 2020 May;37(3):225-230

Department of Neurology, Hacettepe University Hospital, Ankara, Turkey.

Introduction: Subclinical rhythmic EEG discharges in adults (SREDA) is a very rare benign EEG pattern. The electrophysiological features and atypical variants of SREDA has wide spectrum and they are poorly known. It resembles ictal discharges, and overinterpretation of SREDA may lead to misdiagnosis of epilepsy. Read More

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http://dx.doi.org/10.1097/WNP.0000000000000623DOI Listing
May 2020
6 Reads

The intracranial correlate of the 14&6/sec positive spikes normal scalp EEG variant.

Clin Neurophysiol 2019 09 21;130(9):1570-1580. Epub 2019 Jun 21.

Department of Neurology, University of Pittsburgh, Pittsburgh, PA, USA; University of Pittsburgh Comprehensive Epilepsy Center, Pittsburgh, PA, USA.

Objective: To investigate the intracranial correlate of the 14&6/sec positive spikes normal variant of scalp EEG.

Methods: Out of 35 adult refractory focal epilepsy patients who underwent intracranial electrode implantation with simultaneous scalp EEG electrodes, the 14&6/sec positive spikes variant was found in 4. We used three methods to identify and quantify intracranial correlates to the variant: visual inspection, time-referenced waveform averaging and 3D brain volume spectrum-based statistical parametric mapping (SPM). Read More

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http://dx.doi.org/10.1016/j.clinph.2019.05.024DOI Listing
September 2019
8 Reads

Normal EEG variants.

Handb Clin Neurol 2019 ;160:143-160

Department of Neurology, Mayo Clinic College of Medicine and Health Sciences, Jacksonville, FL, United States. Electronic address:

Understanding common variations of normal EEG and benign variants of uncertain significance is essential to discern the boundary between normal and abnormal EEG. Wide variation and fluctuation can occur with normal signals generated by the brain, and these can be a pitfall for less-experienced electroencephalographers in accurately interpreting the EEG. Normal EEG variants are benign and do not portend specific pathological conditions. Read More

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http://dx.doi.org/10.1016/B978-0-444-64032-1.00009-6DOI Listing
December 2019
12 Reads

Child EEG (and maturation).

Handb Clin Neurol 2019 ;160:125-142

Department of Clinical Neurophysiology, Necker-Enfants Malades Hospital, APHP, Paris, France.

EEG changes during the perinatal period, infancy, childhood, and adolescence are concomitant with brain growth, myelination, expanding connectivity, and overall maturation, which are particularly fast during the first year of life. EEG aspects of early brain development are accessible in preterm during the third trimester of gestational age, and they evolve to full-term, infancy, and childhood EEG patterns. Each of these age periods shares specific EEG features that reach gross adult outlines in the first year. Read More

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http://dx.doi.org/10.1016/B978-0-444-64032-1.00008-4DOI Listing
December 2019
13 Reads

Mice Carrying the Human Q321R Mutation Display Enhanced Self-Grooming, Abnormal Electroencephalogram Patterns, and Suppressed Neuronal Excitability and Seizure Susceptibility.

Front Mol Neurosci 2019 18;12:155. Epub 2019 Jun 18.

Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon, South Korea.

Shank3, a postsynaptic scaffolding protein involved in regulating excitatory synapse assembly and function, has been implicated in several brain disorders, including autism spectrum disorders (ASD), Phelan-McDermid syndrome, schizophrenia, intellectual disability, and mania. Here we generated and characterized a knock-in mouse line carrying the Q321R mutation ( mice) identified in a human individual with ASD that affects the ankyrin repeat region (ARR) domain of the Shank3 protein. Homozygous mice show a selective decrease in the level of Shank3a, an ARR-containing protein variant, but not other variants. Read More

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http://dx.doi.org/10.3389/fnmol.2019.00155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591539PMC
June 2019
5 Reads

The Role of EEG in the Erroneous Diagnosis of Epilepsy.

J Clin Neurophysiol 2019 Jul;36(4):294-297

Department of Neurology, University of South Florida, Tampa, Florida, U.S.A.

Errors in diagnosis are relatively common in medicine and occur in all specialties. The consequences can be serious for both patients and physicians. Errors in neurology are often because of the overemphasis on 'tests' over the clinical picture. Read More

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http://dx.doi.org/10.1097/WNP.0000000000000572DOI Listing
July 2019
15 Reads

Normal Variants Are Commonly Overread as Interictal Epileptiform Abnormalities.

J Clin Neurophysiol 2019 Jul;36(4):257-263

Department of Neurology/Epilepsy Division, Johns Hopkins University School of Medicine, Baltimore, Maryland, U.S.A.

Electroencephalographers may misclassify benign variant EEG patterns as epileptiform discharges, resulting in delays in the diagnosis and appropriate treatment of other paroxysmal disorders, such as psychogenic nonepileptic seizures, anxiety/panic disorders, and near syncope. These benign variant patterns include wicket spikes, small sharp spikes, and rhythmic mid-temporal theta of drowsiness. Cautious interpretations of semi-rhythmic sharp transients, usually gradually rising from the EEG background in drowsiness, can help avoid misdiagnosing patients as having seizures. Read More

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http://dx.doi.org/10.1097/WNP.0000000000000613DOI Listing
July 2019
3 Reads

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.

BMC Med Genet 2019 05 7;20(1):77. Epub 2019 May 7.

Unit of Child Neuropsychiatry Residency Program, University Hospital of Sassari, Viale San Pietro 43/B, I-07100, Sassari, Italy.

Background: Mitochondrial respiratory chain consists of five complexes encoded by nuclear and mitochondrial genomes. Mitochondrial aminoacyl-tRNA synthetases are key enzymes in the synthesis of such complexes. Bi-allelic variants of VARS2, a nuclear gene encoding for valyl-tRNA (Val-tRNA) synthetase, are associated to several forms of mitochondrial encephalopathies or cardiomyoencephalopathies. Read More

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http://dx.doi.org/10.1186/s12881-019-0798-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505124PMC
May 2019
8 Reads

Infantile Spasms of Unknown Cause: Who Can Have a Good Outcome?

Authors:

Epilepsy Curr 2019 May-Jun;19(3):171-173. Epub 2019 May 7.

Infantile spasms of unknown cause: predictors of outcome and genotype-phenotype correlation Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, et al. Pediatr Neurol. 2018;87:48-56. Read More

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http://dx.doi.org/10.1177/1535759719845640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610391PMC
May 2019
21 Reads

The spectrum of intermediate SCN8A-related epilepsy.

Epilepsia 2019 05 10;60(5):830-844. Epub 2019 Apr 10.

Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.

Objective: Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies with variable severity. Furthermore, a few patients with intellectual disability (ID) or movement disorders without epilepsy have been reported. The vast majority of the published SCN8A patients suffer from severe developmental and epileptic encephalopathy (DEE). Read More

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http://dx.doi.org/10.1111/epi.14705DOI Listing
May 2019
38 Reads

Epilepsy and genetic in Rett syndrome: A review.

Brain Behav 2019 05 30;9(5):e01250. Epub 2019 Mar 30.

Child and Adolescent Neuropsychiatry, Medical School, University of Salerno, Fisciano, Italy.

Introduction: Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that primarily affects girls, with an incidence of 1:10,000-20,000. The diagnosis is based on clinical features: an initial period of apparently normal development (ages 6-12 months) followed by a rapid decline with regression of acquired motor skills, loss of spoken language and purposeful hand use, onset of hand stereotypes, abnormal gait, and growth failure. The course of the disease, in its classical form, is characterized by four stages. Read More

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http://dx.doi.org/10.1002/brb3.1250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520293PMC
May 2019
25 Reads

Clinical spectrum of -related epileptic disorders.

Neurology 2019 03 8;92(11):e1238-e1249. Epub 2019 Feb 8.

From the University of Tübingen (S. Wolking, J.M., Y.G.W., H.L., J.S.), Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Luxembourg Centre for Systems Biomedicine (P.M.), University of Luxembourg, Esch-sur-Alzette; Pediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G., C.M.), Children's Hospital Anna Meyer, University of Florence, Italy; Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Department of Clinical and Experimental Epilepsy (S.B.), UCL Institute of Neurology and Epilepsy Society, UK, London; Division of Neurology (K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (C.D.A.), Centre de Compétences Maladies Rares, CHU Besançon; Service de Génétique (N.C.), Hospices Civils des Lyon, Bron; GENDEV Team (N.C.), Neurosciences Research Center of Lyon, Bron, France; Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Beaumont Hospital (P.W.-W.), Dublin, Ireland; Department of Pediatrics, Division of Medical Genetics, Institute of Human Genetics (B.A.M.), Departments of Neurology and Pediatrics (A.N.), and Departments of Neurology and Pediatrics, and Institute of Human Genetics (M.R.C.), University of California, San Francisco; Department of Neurology (W.V.P.), University Hospitals Leuven, Belgium; Department of Pediatrics (L.L.S.), Hvidovre Hospital, Denmark; King's College Hospital (S.O., E.H., S.G., D.K.P.), London; Evelina London Children's Hospital (S.O., E.H., S.G.), London, UK; Section of Genetics (K.B., M.S.S.), Department of Pediatrics, University of Colorado and Children's Hospital Colorado, Aurora; Clinique Bernoise Montana (T.D.), Crans-Montana, Switzerland; Department of Neuropediatrics (H.M.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics (A.T.P., S.J.L.K., J.C.T.) and Department of Oncology (D.V.V.), University of Oxford, UK; Epilepsy Center (M.P.C.), Health Sciences Department, San Paolo Hospital, University of Milan; Child Neuropsychiatry (F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., C.K.), Mayo Clinic, Rochester, MN; Ambry Genetics (Z.P.), Aliso Viejo, CA; Department of Clinical Neuroscience (S.T.), King's College London; New Medicines (M.A., D.M.), UCB Pharma, Slough, UK; Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation (G.J.K.), PMU Salzburg, Austria; Department of Neurology (D.H.L.), University of California, San Francisco; Neurogenetics Group (S. Weckhuysen), Center for Molecular Neurology, VIB, Antwerp; Laboratory of Neurogenetics (S. Weckhuysen), Institute Born-Bunge, University of Antwerp; Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Antwerp, Belgium; Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience (D.K.P.), MRC Centre for Neurodevelopmental Disorders (D.K.P.), King's College London, UK; Evelina London Children's Hospital (D.K.P.), London, UK; Department of Neuropediatrics (I.H.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Institute of Neuroscience (R.H.T.), Henry Wellcome Building, Newcastle University; Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, Swansea, UK; Service de Génétique (G.L.), Hospices Civils des Lyon, Bron; GENDEV Team (G.L.), Neurosciences Research Center of Lyon, Bron, France; NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, London, UK; Cologne Center for Genomics (D.L.), University of Cologne, Germany; Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Cambridge; Psychiatric and Neurodevelopmental Genetics Unit (D.L.), Massachusetts General Hospital and Harvard Medical School, Boston.

Objective: The aim of this study was to expand the spectrum of epilepsy syndromes related to , encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants.

Methods: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. Read More

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http://dx.doi.org/10.1212/WNL.0000000000007089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511102PMC
March 2019
16 Reads

Atypical SREDA During Wakefulness, NREM and REM Sleep in a Young Teenager: A Diagnostic Challenge.

Clin EEG Neurosci 2019 Jul 23;50(4):296-299. Epub 2019 Jan 23.

1 Section of Pediatric Epilepsy, Epilepsy Center, Department of Neurology, Cleveland Clinic, Cleveland, OH, USA.

Subclinical rhythmic electrographic discharges of adult (SREDA) is a rare variant considered to be normal in EEG. It consists of sharp-contoured or sinusoidal waveforms in the theta frequency range (usually 5-7 Hz), occurring in a widespread distribution, often maximal over the parietotemporal regions. SREDA is usually bilateral but could be unilateral (atypical SREDA). Read More

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http://dx.doi.org/10.1177/1550059418824446DOI Listing
July 2019
22 Reads

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.

Brain 2019 01;142(1):59-69

Consultant in Neuropathology, Centro Hospitalar São João, Porto, Portugal.

Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction from normal age-related accumulation of lipofuscin can be challenging. Mutation of CLN6 has emerged as the most important cause of recessive Kufs disease but, remarkably, is also responsible for variant late infantile ceroid lipofuscinosis. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awy297DOI Listing
January 2019
42 Reads

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

J Neurol 2019 Feb 4;266(2):378-385. 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
February 2019
37 Reads
3.377 Impact Factor

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.

Am J Med Genet A 2018 12 26;176(12):2554-2560. Epub 2018 Nov 26.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

Polyamines serve a number of vital functions in humans, including regulation of cellular proliferation, intracellular signaling, and modulation of ion channels. Ornithine decarboxylase 1 (ODC1) is the rate-limiting enzyme in endogenous polyamine synthesis. In this report, we present four patients with a distinct neurometabolic disorder associated with de novo heterozygous, gain-of-function variants in the ODC1 gene. Read More

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http://doi.wiley.com/10.1002/ajmg.a.60677
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http://dx.doi.org/10.1002/ajmg.a.60677DOI Listing
December 2018
34 Reads

Electrographic spikes are common in wildtype mice.

Epilepsy Behav 2018 12 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
13 Reads
2.260 Impact Factor

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

Pediatr Neurol 2018 10 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
39 Reads

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

Genet Med 2019 04 31;21(4):1008-1014. 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
April 2019
57 Reads

SYT1-associated neurodevelopmental disorder: a case series.

Brain 2018 09;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
66 Reads

Small sharp spikes as EEG markers of mesiotemporal lobe epilepsy.

Clin Neurophysiol 2018 09 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
30 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
15 Reads

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

Clin Neurophysiol 2018 05 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
12 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
9 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
33 Reads

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

J Med Genet 2017 12 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
30 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
8 Reads

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
84 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
9 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
15 Reads