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1. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Author

Mignot, C., von Stulpnage, C., Nava, C., Ville, D., Sanlaville, D., Lesca, G., Rastetter, A., Gachet, B., Marie, Y., Korenke, G. C., Borggraefe, I., Hoffmann-Zacharska, D., Szczepanik, E., Rudzka-Dybala, M., Uluc, Yis, Caglayan, H., Isapof, A., Marey, I., Panagiotakaki, E., Korff, C., Rossier, E., Riess, A., Beck-Woedl, S., Rauch, A., Zweier, C., Hoyer, J., Reis, A., Mironov, M., Bobylova, M., Mukhin, K., Hernandez-Hernandez, L., Maher, B., Sisodiya, S., Kuhn, M., Glaeser, D., Wechuysen, S., Myers, C. T., Mefford, H. C., Hortnagel, K., Biskup, S., Lemke, J. R., Heron, D., Kluger, G., Depienne, C., Craiu, D., De Jonghe, P., Helbig, I., Guerrini, R., Lehesjoki, A. -E., Marini, C., Muhle, H., Moller, R. S., Neubauer, B., Pal, D., Selmer, K., Stephani, U., Sterbova, K., Striano, P., Talvik, T., von Spiczak, S., Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie Pédiatrique [CHU Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique [HCL Groupement Hospitalier Est], Groupement hospitalier Lyon-Est, Université de Lyon, Klinikum Oldenburg [Oldenburg], Zentrum für Kinder- und Jugendmedizin, Dpt of Pediatric Neurology and Developmental Medicine and Epilepsy Center [Munich], University of Munich, Department of Medical Genetics, Institute of Mother and Child, Division of Child Neurology, Dokuz Eylül Üniversitesi = Dokuz Eylül University [Izmir] (DEÜ), Dpt of Molecular Biology and Genetics Istanbul, Boǧaziçi üniversitesi = Boğaziçi University [Istanbul], Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Epilepsie, sommeil et explorations fonctionnelles neuropédiatriques, Hospices Civils de Lyon (HCL)-Hôpital Femme Mère Enfant, Dpt de l'Enfant et de l'Adolescent, Neuropédiatrie [Genève], Hôpitaux Universitaires de Genève (HUG), Institute of Human Genetics [Tuebingen], University of Tuebingen, Institute of Medical Genetics and Applied Genomics [Tübingen], University of Tübingen, Institute of Medical Genetics, Universität Zürich [Zürich] = University of Zurich (UZH), Institute of Human Genetics [Erlangen, Allemagne], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Svt. Luka's Institute of Child Neurology and Epilepsy, Department of Clinical and Experimental Epilepsy, University College of London [London] (UCL), Genetikum, Neurogenetics Group, Division of Genetic Medicine [Seattle], University of Washington [Seattle], CeGaT GmbH, Institut für Humangenetik, Universität Heidelberg [Heidelberg], Mignot, Cyril, von Stülpnagel, Celina, Korff, Christian, EuroEPINOMICS-RES MAE Working Grp, HAL-UPMC, Gestionnaire, Service de génétique, cytogénétique, embryologie [CHU Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Groupement Hospitalier Lyon-Est (GHE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Boğaziçi University [Istanbul], CHU Trousseau [APHP], and Universität Heidelberg [Heidelberg] = Heidelberg University

Subjects
0301 basic medicine, Pediatrics, medicine.medical_specialty, Encephalopathy, Myoclonic Jerk, SYNGAP1, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, fluids and secretions, Medizinische Fakultät, Intellectual disability, mental disorders, Genetics, medicine, ddc:610, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Exome, Genetics (clinical), reproductive and urinary physiology, ddc:618, business.industry, medicine.disease, Hypotonia, 3. Good health, 030104 developmental biology, Autism, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Mae Euroepinomics-Res Mae; International audience; Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype–phenotype correlations.Methods We sequenced the exome or screened the exons of SYNGAP1 in a total of 251 patients with neurodevelopmental disorders. Molecular and clinical data from patients with SYNGAP1 mutations from other centres were also collected, focusing on developmental aspects and the associated epilepsy phenotype. A review of SYNGAP1 mutations published in the literature was also performed.Results We describe 17 unrelated affected individuals carrying 13 different novel loss-of-function SYNGAP1 mutations. Developmental delay was the first manifestation of SYNGAP1-related encephalopathy; intellectual disability became progressively obvious and was associated with autistic behaviours in eight patients. Hypotonia and unstable gait were frequent associated neurological features. With the exception of one patient who experienced a single seizure, all patients had epilepsy, characterised by falls or head drops due to atonic or myoclonic seizures, (myoclonic) absences and/or eyelid myoclonia. Triggers of seizures were frequent (n=7). Seizures were pharmacoresistant in half of the patients. The severity of the epilepsy did not correlate with the presence of autistic features or with the severity of cognitive impairment. Mutations were distributed throughout the gene, but spared spliced 3′ and 5′ exons. Seizures in patients with mutations in exons 4–5 were more pharmacoresponsive than in patients with mutations in exons 8–15.Conclusions SYNGAP1 encephalopathy is characterised by early neurodevelopmental delay typically preceding the onset of a relatively recognisable epilepsy comprising generalised seizures (absences, myoclonic jerks) and frequent triggers.

Published
2016

2. SIMULTANEOUS IMPAIRMENT OF NEURONAL AND METABOLIC FUNCTION OF GEPHYRIN IN A PATIENT WITH EPILEPTIC ENCEPHALOPATHY

Author

Djemie, T., Dejanovic, B., Suls, A., Gruenewald, N., Craiu, D., Zemel, M., Gormley, P., Lal, D., Myers, C. T., Mefford, H., Palotie, A., Helbig, I., De Jonghe, P., Schwarz, G., Weckhuysen, S., Djemie, T., Dejanovic, B., Suls, A., Gruenewald, N., Craiu, D., Zemel, M., Gormley, P., Lal, D., Myers, C. T., Mefford, H., Palotie, A., Helbig, I., De Jonghe, P., Schwarz, G., and Weckhuysen, S.

Published
2015

9. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

Author

Lance H. Rodan, Chelsea Chambers, Sophie Calvert, Montserrat Arellano, Elisabeth Gabau, Amy L Schneider, Jacques L. Michaud, Ariane Soldatos, Nino Spataro, M. Scott Perry, Gerarda Cappuccio, Christopher Balak, Mary D. King, Alison M. Muir, Heather C Mefford, Elsa Rossignol, Katherine L. Helbig, Carsten G. Bönnemann, Ingrid E. Scheffer, Candace T. Myers, Nicola Brunetti-Pierri, Kathleen M. Gorman, Sandra Donkervoort, Alice Basinger, Fadi F. Hamdan, Schneider, A. L., Myers, C. T., Muir, A. M., Calvert, S., Basinger, A., Perry, M. S., Rodan, L., Helbig, K. L., Chambers, C., Gorman, K. M., King, M. D., Donkervoort, S., Soldatos, A., Bonnemann, C. G., Spataro, N., Gabau, E., Arellano, M., Cappuccio, G., Brunetti Pierri, N., Rossignol, E., Hamdan, F. F., Michaud, J. L., Balak, C., Mefford, H. C., and Scheffer, I. E.

Subjects
Adult, Male, 0301 basic medicine, Drug Resistant Epilepsy, Pediatrics, medicine.medical_specialty, Microcephaly, Movement disorders, Adolescent, Encephalopathy, Mutation, Missense, Progressive myoclonus epilepsy, profound intellectual disability, Craniofacial Abnormalities, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Intellectual disability, FBXO28, Humans, Medicine, developmental and epileptic encephalopathy, Child, Frameshift Mutation, Brain Diseases, SKP Cullin F-Box Protein Ligases, business.industry, Infant, Electroencephalography, Myoclonic Epilepsies, Progressive, medicine.disease, Hypotonia, Phenotype, 030104 developmental biology, Neurology, Codon, Nonsense, Child, Preschool, Female, movement disorder, Neurology (clinical), medicine.symptom, business, Epileptic Syndromes, Spasms, Infantile, 030217 neurology & neurosurgery
Abstract

Chromosome 1q41-q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41-q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease. Patients with WDR26 encephalopathy overlap clinically with those with 1q41-q42 deletion syndrome, whereas only one patient with FBXO28 encephalopathy has been described. Seizures are a prominent feature of 1q41-q42 deletion syndrome; therefore, we hypothesized that pathogenic FBXO28 variants cause developmental and epileptic encephalopathies (DEEs). We describe nine new patients with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and analyze all 10 known cases to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features, albeit different to those typically seen in 1q41-q42 deletion syndrome and WDR26 encephalopathy. We distinguish FBXO28 encephalopathy from both of these disorders with more severe intellectual impairment, drug-resistant epilepsy, and hyperkinetic movement disorders.

Published
2020

10. Damaging de novo missense variants in EEF1A2lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Author

Laurine Perrin, Sha Tang, Brandon S. Guida, Tjitske Kleefstra, Marjolein H. Willemsen, Heather Stickney, Michael C. Kruer, Keri Ramsey, Heather C Mefford, Lynette G. Sadleir, Bobby P. C. Koeleman, Evelyn Sattlegger, Angela E. Lin, Sara A. Lewis, Marcello Scala, Sergio Padilla-Lopez, Luis O. Rohena, Joaquim Sa, Marie Laure Mathieu, Floor E. Jansen, Joy Y. Sebe, David W. Raible, Giorgio Casari, Gemma L. Carvill, Ingrid E. Scheffer, Paul A. Caruso, Robert Huether, Mariasavina Severino, Candace T. Myers, Eva H. Brilstra, Ashwin A. Bhandiwad, Katherine L. Helbig, Somayeh Bakhtiari, Sehribani Ulusoy Oktay, Gaetan Lesca, Vinodh Narayanan, Georgina Hollingsworth, Tyler N. Kruer, Christel Depienne, Valeria Capra, Pasquale Striano, Timothy Feyma, Deepak Gill, Andrea Accogli, Caroline Nava, Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A., Severino, M., Hollingsworth, G., Gill, D., Depienne, C., Nava, C., Sadleir, L. G., Caruso, P. A., Lin, A. E., Jansen, F. E., Koeleman, B., Brilstra, E., Willemsen, M. H., Kleefstra, T., Sa, J., Mathieu, M. -L., Perrin, L., Lesca, G., Striano, P., Casari, G., Scheffer, I. E., Raible, D., Sattlegger, E., Capra, V., Padilla-Lopez, S., Mefford, H. C., and Kruer, M. C.

Subjects
Adult, Male, de novo, Heterozygote, Adolescent, Encephalopathy, Choreoathetosis, Mutation, Missense, EEF1A2, Haploinsufficiency, Biology, Article, 03 medical and health sciences, Epilepsy, All institutes and research themes of the Radboud University Medical Center, Peptide Elongation Factor 1, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), 030304 developmental biology, Dystonia, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 030305 genetics & heredity, Genetic Complementation Test, medicine.disease, yeast complementation assay, Protein Structure, Tertiary, dyskinesia, Child, Preschool, epilepsy, Cerebellar atrophy, Epilepsy, Generalized, Female, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
Abstract

Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new individuals with heterozygous EEF1A2 variants. We functionally validate multiple variants as protein-damaging using heterologous expression and complementation analysis. Our findings allow us to confirm multiple variants as pathogenic and broaden the phenotypic spectrum to include dystonia/choreoathetosis, and in some cases a degenerative course with cerebral and cerebellar atrophy. Pathogenic variants appear to act via a haploinsufficiency mechanism, disrupting both the protein synthesis and integrated stress response functions of EEF1A2. Our studies provide evidence that EEF1A2 is highly intolerant to variation and that de novo pathogenic variants lead to an epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features. Developmental features may be driven by impaired synaptic protein synthesis during early brain development while progressive symptoms may be linked to an impaired ability to handle cytotoxic stressors.

Published
2020

11. CHD2 variants are a risk factor for photosensitivity in epilepsy

Author

Galizia, Elizabeth C, Myers, Candace T, Leu, Costin, de Kovel, Carolien G F, Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G, Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V, Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S, Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L, Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G, Mullen, Saul A, Berkovic, Samuel F, Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D, Esguerra, Zara, Federico, Striano, Pasquale, Camila, V, Kasteleijn-Nolst Trenité, Dorothee G A, Koeleman, Bobby P C, Mefford, Heather C, Scheffer, Ingrid E, Sisodiya, Sanjay M, Luxembourg Centre for Systems Biomedicine (LCSB): Chemical Biology (Crawford Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Galizia, E. C., Myers, C. T., Leu, C., De Kovel, C. G. F., Afrikanova, T., Cordero-Maldonado, M. L., Martins, T. G., Jacmin, M., Drury, S., Chinthapalli, V. K., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A. -K., Moller, R. S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A. -E., Nürnberg, P., Lerche, H., Palotie, A., Coppola, A., Striano, S., Del Gaudio, L., Boustred, C., Schneider, A. L., Lench, N., Jocic-Jakubi, B., Covanis, A., Capovilla, G., Veggiotti, P., Piccioli, M., Parisi, P., Cantonetti, L., Sadleir, L. G., Mullen, S. A., Berkovic, S. F., Stephani, U., Helbig, I., Crawford, A. D., Esguerra, C. V., Trenité, D. G. A. K. -N., Koeleman, B. P. C., Mefford, H. C., Scheffer, I. E., and Sisodiya, S. M.

Subjects
INTELLECTUAL DISABILITY, Neurology [D14] [Human health sciences], seizure, Epilepsy, Reflex, Research Support, N.I.H., Extramural, eyelid myoclonia with absences, photosensitive, animals, DNA-binding proteins, electroencephalography, epilepsy, reflex, gene knockdown techniques, humans, mutation, photic stimulation, risk factors, zebrafish, genetic predisposition to disease, Risk Factors, Reflex, Journal Article, Animals, Humans, MICRODELETION, Genetic Predisposition to Disease, JUVENILE MYOCLONIC EPILEPSY, Zebrafish, COPY NUMBER VARIANTS, Epilepsy, Neurologie [D14] [Sciences de la santé humaine], Research Support, Non-U.S. Gov't, Electroencephalography, Original Articles, GENETIC DISSECTION, FAMILY, DNA-Binding Proteins, DE-NOVO MUTATIONS, Gene Knockdown Techniques, Mutation, Photic Stimulation, LENNOX-GASTAUT SYNDROME, IDIOPATHIC GENERALIZED EPILEPSY, ENCEPHALOPATHIES
Abstract

Photosensitivity in epilepsy is common and has high heritability, but its genetic basis remains uncertain. Galizia et al. reveal an overrepresentation of unique variants of CHD2 — which encodes the transcriptional regulator ‘chromodomain helicase DNA-binding protein 2’ — in photosensitive epilepsies, and show that chd2 knockdown in zebrafish causes photosensitivity., Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures. We studied 580 individuals with epilepsy and either photosensitive seizures or abnormal photoparoxysmal response on electroencephalography, or both, and 55 individuals with photoparoxysmal response but no seizures. We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. We investigated the role of unique variants seen only once in the entire data set. We sought CHD2 variants in 238 exomes from familial genetic generalized epilepsies, and in other public exome data sets. We identified 11 unique variants in the 580 individuals with photosensitive epilepsies and 128 unique variants in the 34 427 controls: unique CHD2 variation is over-represented in cases overall (P = 2·17 × 10−5). Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3·50 × 10−4). CHD2 variation was not over-represented in photoparoxysmal response without seizures. Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome, eyelid myoclonia with absences. Unique CHD2 variants are also associated with photosensitivity in common epilepsies. CHD2 does not encode an ion channel, opening new avenues for research into human cortical excitability.

Published
2015

12. Genetic investigations of the epileptic encephalopathies: Recent advances.

Author

Myers CT and Mefford HC

Subjects
Brain Diseases complications, Brain Diseases genetics, Epilepsy etiology, Genomics, Humans, Epilepsy genetics, Genetic Predisposition to Disease genetics, Genetic Testing, Mutation genetics
Abstract

The epileptic encephalopathies (EEs) are a group of epilepsy syndromes characterized by multiple seizure types, abundant epileptiform activity, and developmental delay or regression. Advances in genomic technologies over the past decade have accelerated our understanding of the genetic etiology of EE, which is largely due to de novo mutations. Chromosome microarrays to detect copy number variants identify a genomic cause in at least 5-10% of cases. Next-generation sequencing in the form of gene panels or whole exome sequencing have highlighted the role of de novo sequence changes and revealed extensive genetic heterogeneity. The novel gene discoveries in EE implicate diverse cellular pathways including chromatin remodeling, transcriptional regulation, and mTOR regulation in the etiology of epilepsy, highlighting new targets for potential therapeutic intervention. In this chapter, we discuss the rapid pace of gene discovery in EE facilitated by genomic technologies and highlight several novel genes and potential therapies., (© 2016 Elsevier B.V. All rights reserved.)

Published
2016
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13. Adherence to balance tolerance limits at the Upper Mississippi Science Center, La Crosse, Wisconsin.

Author

Myers CT and Kennedy DM

Subjects
Academies and Institutes, Bias, Calibration, Quality Control, Reference Standards, Wisconsin, Weights and Measures standards
Abstract

Verification of balance accuracy entails applying a series of standard masses to a balance prior to use and recording the measured values. The recorded values for each standard should have lower and upper weight limits or tolerances that are accepted as verification of balance accuracy under normal operating conditions. Balance logbooks for seven analytical balances at the Upper Mississippi Science Center were checked over a 3.5-year period to determine if the recorded weights were within the established tolerance limits. A total of 9435 measurements were checked. There were 14 instances in which the balance malfunctioned and operators recorded a rationale in the balance logbook. Sixty-three recording errors were found. Twenty-eight operators were responsible for two types of recording errors: Measurements of weights were recorded outside of the tolerance limit but not acknowledged as an error by the operator (n = 40); and measurements were recorded with the wrong number of decimal places (n = 23). The adherence rate for following tolerance limits was 99.3%. To ensure the continued adherence to tolerance limits, the quality-assurance unit revised standard operating procedures to require more frequent review of balance logbooks.

Published
1998
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14. Calibration or verification? A balanced approach for science.

Author

Myers CT and Kennedy DM

Subjects
Chemistry Techniques, Analytical instrumentation, Chemistry Techniques, Analytical standards, Quality Control, Surveys and Questionnaires, Weights and Measures standards, Calibration standards
Abstract

The calibration of balances is routinely performed both in the laboratory and the field. This process is required to accurately determine the weight of an object or chemical. The frequency of calibration and verification of balances is mandated by their use and location. Tolerance limits for balances could not be located in any standard procedure manuals. A survey was conducted to address the issues of calibration and verification frequency and to discuss the significance of defining tolerance limits for balances. Finally, for the benefit of laboratories unfamiliar with such procedures, we provide a working model based on our laboratory, the Upper Mississippi Science Center (UMSC), in La Crosse, Wisconsin.

Published
1997

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