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1. Reduced Interhemispheric Coherence and Cognition in Children with Fetal Alcohol Spectrum Disorder (FASD)—A Quantitative EEG Study.

Author

Gerstner, Thorsten, Henning, Oliver, Løhaugen, Gro, and Skranes, Jon

Subjects
*FETAL alcohol syndrome, *COGNITION in children, *FETAL MRI, *ANALYSIS of covariance, *QUANTITATIVE research
Abstract

Background Magnetic resonance imaging in fetal alcohol spectrum disorder (FASD) children showed altered connectivity, suggesting underlying deficits in networks, which may be related to cognitive outcome. Functional connectivity has been of interest in neurophysiological research with quantitative electroencephalography (QEEG) as useful tool for measuring pathology, not detectable by normal EEG. The aim of this study was to investigate differences in the EEG interhemispheric coherence (ICoh) in children diagnosed with FASD compared with healthy controls and to relate the results to cognitive scores. Method Analysis of ICoh in 81 FASD children (4-Digit Code) compared with 31 controls. The children underwent cognitive assessment, and EEG was performed and used for analysis. Group comparisons and analysis of covariance interaction models were used to test for differences between FASD and controls but also to look for differences between FASD subgroups. Significant findings were correlated to cognitive scores. Results Lower ICoh was found in the frontal and temporal derivations in the FASD group. When comparing FASD subgroups, children with fetal alcohol syndrome had lower ICoh occipital. Reduced ICoh in the temporal alpha band was correlated with lower performance IQ in the FASD group. Conclusion Our findings could imply hypoconnectivity between the hemispheres with impact on cognition. We suggest that EEG coherence analysis could be a sensitive parameter in the detection of electrophysiological abnormalities in FASD with possible clinical relevance. These results may indicate that QEEG could be used as biomarker for FASD. However, further research is needed to determine the role of QEEG analysis in the diagnosis of FASD. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Frequency of epilepsy and pathological EEG findings in a Norwegian sample of children with fetal alcohol spectrum disorder: Impact on cognition and adaptive functioning.

Author

Gerstner, Thorsten, Henning, Oliver, Løhaugen, Gro, and Skranes, Jon

Subjects
*MEMORY, *FRONTAL lobe, *ELECTROENCEPHALOGRAPHY, *ANALYSIS of variance, *EPILEPSY, *COGNITION in children, *FUNCTIONAL status, *CROSS-sectional method, *COGNITIVE processing speed, *CHILD development, *CHILD behavior, *ADAPTABILITY (Personality) in children, *COMPARATIVE studies, *ATTENTION-deficit hyperactivity disorder, *FUNCTIONAL assessment, *NEURAL development, *NEUROPSYCHOLOGICAL tests, *DISEASE prevalence, *INTELLECT, *DESCRIPTIVE statistics, *DATA analysis software, *FETAL alcohol syndrome, *COMORBIDITY, *DISEASE complications, *SYMPTOMS, *CHILDREN
Abstract

Background: Fetal alcohol spectrum disorder (FASD) comprises a combination of developmental, cognitive, and behavioral disabilities that occur in children exposed to alcohol prenatally. A higher prevalence of epilepsy and pathological electroencephalographic (EEG) features have also been reported in individuals with FASD. We examined the frequency of epilepsy, pathological EEG findings, and their implications for cognitive and adaptive functioning in children with FASD. Methods: We conducted a cross‐sectional study of 148 children with FASD who underwent a multidisciplinary assessment and a 120‐min EEG recording. Group comparisons and regression analyses were performed to test the associations between epilepsy and pathological EEG findings, FASD subgroups and neurocognitive test results and adaptive functioning. Results: The frequency of epilepsy was 6%, which compares with 0.7% in Norway overall. Seventeen percent of children without epilepsy had pathological EEG findings. Attention‐deficit hyperactivity disorder (ADHD) was diagnosed in 64% of the children. Children with epilepsy and/or pathological EEG findings had comparable cognitive and adaptive scores to those with normal EEG. However, children with frontal EEG pathology (without epilepsy) had significantly lower scores on the IQ indices Processing speed and Working memory than FASD children without such findings, irrespective of ADHD comorbidity. Conclusions: There was a greater prevalence of epilepsy among children with FASD than in the general Norwegian population. A greater frequency of EEG pathology was also evident in children without epilepsy, across all FASD subgroups. Irrespective of epilepsy, ADHD comorbidity, and FASD subgroup, children with frontal EEG pathology, despite having a normal total IQ, showed significantly slower processing speed and poorer working memory, which may indicate specific executive function deficits that could affect learning and adaptive functioning. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites

Author

de Prisco, Nicola, primary, Ford, Caitlin, additional, Elrod, Nathan D., additional, Lee, Winston, additional, Tang, Lauren C., additional, Huang, Kai-Lieh, additional, Lin, Ai, additional, Ji, Ping, additional, Jonnakuti, Venkata S., additional, Boyle, Lia, additional, Cabaj, Maximilian, additional, Botta, Salvatore, additional, Õunap, Katrin, additional, Reinson, Karit, additional, Wojcik, Monica H., additional, Rosenfeld, Jill A., additional, Bi, Weimin, additional, Tveten, Kristian, additional, Prescott, Trine, additional, Gerstner, Thorsten, additional, Schroeder, Audrey, additional, Fong, Chin-To, additional, George-Abraham, Jaya K., additional, Buchanan, Catherine A., additional, Hanson-Khan, Andrea, additional, Bernstein, Jonathan A., additional, Nella, Aikaterini A., additional, Chung, Wendy K., additional, Brandt, Vicky, additional, Jovanovic, Marko, additional, Targoff, Kimara L., additional, Yalamanchili, Hari Krishna, additional, Wagner, Eric J., additional, and Gennarino, Vincenzo A., additional

Published
2023
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7. The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study

Author

Jamali, Ahmed, primary, Kristensen, Erle, additional, Tangeraas, Trine, additional, Arntsen, Vibeke, additional, Sikiric, Alma, additional, Kupliauskiene, Guste, additional, Myren-Svelstad, Sverre, additional, Berland, Siren, additional, Sejersted, Yngve, additional, Gerstner, Thorsten, additional, Hassel, Bjørnar, additional, Bindoff, Laurence A., additional, and Brodtkorb, Eylert, additional

Published
2023
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8. De novo missense variants in FBXO11 alter its protein expression and subcellular localization

Author

Gregor, Anne, primary, Meerbrei, Tanja, additional, Gerstner, Thorsten, additional, Toutain, Annick, additional, Lynch, Sally Ann, additional, Stals, Karen, additional, Maxton, Caroline, additional, Lemke, Johannes R, additional, Bernat, John A, additional, Bombei, Hannah M, additional, Foulds, Nicola, additional, Hunt, David, additional, Kuechler, Alma, additional, Beygo, Jasmin, additional, Stöbe, Petra, additional, Bouman, Arjan, additional, Palomares-Bralo, Maria, additional, Santos-Simarro, Fernando, additional, Garcia-Minaur, Sixto, additional, Pacio-Miguez, Marta, additional, Popp, Bernt, additional, Vasileiou, Georgia, additional, Hebebrand, Moritz, additional, Reis, André, additional, Schuhmann, Sarah, additional, Krumbiegel, Mandy, additional, Brown, Natasha J, additional, Sparber, Peter, additional, Melikyan, Lyusya, additional, Bessonova, Liudmila, additional, Cherevatova, Tatiana, additional, Sharkov, Artem, additional, Shcherbakova, Natalia, additional, Dabir, Tabib, additional, Kini, Usha, additional, Schwaibold, Eva M C, additional, Haack, Tobias B, additional, Bertoli, Marta, additional, Hoffjan, Sabine, additional, Falb, Ruth, additional, Shinawi, Marwan, additional, Sticht, Heinrich, additional, and Zweier, Christiane, additional

Published
2021
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9. KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating

Author

Zhang, Yongqiang, primary, Tachtsidis, Georgios, additional, Schob, Claudia, additional, Koko, Mahmoud, additional, Hedrich, Ulrike B S, additional, Lerche, Holger, additional, Lemke, Johannes R, additional, van Haeringen, Arie, additional, Ruivenkamp, Claudia, additional, Prescott, Trine, additional, Tveten, Kristian, additional, Gerstner, Thorsten, additional, Pruniski, Brianna, additional, DiTroia, Stephanie, additional, VanNoy, Grace E, additional, Rehm, Heidi L, additional, McLaughlin, Heather, additional, Bolz, Hanno J, additional, Zechner, Ulrich, additional, Bryant, Emily, additional, McDonough, Tiffani, additional, Kindler, Stefan, additional, and Bähring, Robert, additional

Published
2021
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10. KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating

Author

Zhang, Yongqiang, Tachtsidis, Georgios, Schob, Claudia, Koko, Mahmoud, Hedrich, Ulrike B. S., Lerche, Holger, Lemke, Johannes R., van Haeringen, Arie, Ruivenkamp, Claudia, Prescott, Trine, Tveten, Kristian, Gerstner, Thorsten, Pruniski, Brianna, DiTroia, Stephanie, VanNoy, Grace E., Rehm, Heidi L., McLaughlin, Heather, Bolz, Hanno J., Zechner, Ulrich, Bryant, Emily, McDonough, Tiffani, Kindler, Stefan, Baehring, Robert, Zhang, Yongqiang, Tachtsidis, Georgios, Schob, Claudia, Koko, Mahmoud, Hedrich, Ulrike B. S., Lerche, Holger, Lemke, Johannes R., van Haeringen, Arie, Ruivenkamp, Claudia, Prescott, Trine, Tveten, Kristian, Gerstner, Thorsten, Pruniski, Brianna, DiTroia, Stephanie, VanNoy, Grace E., Rehm, Heidi L., McLaughlin, Heather, Bolz, Hanno J., Zechner, Ulrich, Bryant, Emily, McDonough, Tiffani, Kindler, Stefan, and Baehring, Robert

Abstract

Here, we report on six unrelated individuals, all presenting with early-onset global developmental delay, associated with impaired motor, speech and cognitive development, partly with developmental epileptic encephalopathy and physical dysmorphisms. All individuals carry heterozygous missense variants of KCND2, which encodes the voltage-gated potassium (Kv) channel alpha-subunit Kv4.2. The amino acid substitutions associated with the variants, p.(Glu323Lys) (E323K), p.(Pro403Ala) (P403A), p.(Val404Leu) (V404L) and p.(Val404Met) (V404M), affect sites known to be critical for channel gating. To unravel their likely pathogenicity, recombinant mutant channels were studied in the absence and presence of auxiliary beta-subunits under two-electrode voltage clamp in Xenopus oocytes. All channel mutants exhibited slowed and incomplete macroscopic inactivation, and the P403A variant in addition slowed activation. Co-expression of KChIP2 or DPP6 augmented the functional expression of both wild-type and mutant channels; however, the auxiliary beta-subunit-mediated gating modifications differed from wild type and among mutants. To simulate the putative setting in the affected individuals, heteromeric Kv4.2 channels (wild type + mutant) were studied as ternary complexes (containing both KChIP2 and DPP6). In the heteromeric ternary configuration, the E323K variant exhibited only marginal functional alterations compared to homomeric wild-type ternary, compatible with mild loss-of-function. By contrast, the P403A, V404L and V404M variants displayed strong gating impairment in the heteromeric ternary configuration, compatible with loss-of-function or gain-of-function. Our results support the etiological involvement of Kv4.2 channel gating impairment in early-onset monogenic global developmental delay. In addition, they suggest that gain-of-function mechanisms associated with a substitution of V404 increase epileptic seizure susceptibility.

Published
2021

15. Valproic acid induced encephalopathy – 19 new cases in Germany from 1994 to 2003 – A side effect associated to VPA-therapy not only in young children

Author

Gerstner, Thorsten, Buesing, Deike, Longin, Elke, Bendl, Claudia, Wenzel, Dieter, Scheid, Brigitte, Goetze, Gisela, Macke, Alfons, Lippert, Gerhard, Klostermann, Wolfgang, Mayer, Geert, Augspach-Hofmann, Regine, Fitzek, Sabine, Haensch, Carl-Albrecht, Reuland, Markus, and Koenig, Stephan A.

Published
2006
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19. De novo missense variants in FBXO11 alter its protein expression and subcellular localization.

Author

Gregor, Anne, Meerbrei, Tanja, Gerstner, Thorsten, Toutain, Annick, Lynch, Sally Ann, Stals, Karen, Maxton, Caroline, Lemke, Johannes R, Bernat, John A, Bombei, Hannah M, Foulds, Nicola, Hunt, David, Kuechler, Alma, Beygo, Jasmin, Stöbe, Petra, Bouman, Arjan, Palomares-Bralo, Maria, Santos-Simarro, Fernando, Garcia-Minaur, Sixto, and Pacio-Miguez, Marta

Published
2022
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23. Valproic Acid–induced Hepatopathy: Nine New Fatalities in Germany from 1994 to 2003

Author

Koenig, Stephan A., Buesing, Deike, Longin, Elke, Oehring, Randi, Häussermann, Peter, Kluger, Gerhard, Lindmayer, Friedemann, Hanusch, Ralf, Degen, Ingrid, Kuhn, Hans, Samii, Kamrun, Jungck, Albrecht, Brückner, Reinhard, Seitz, Reinhild, Boxtermann, Wolfgang, Weber, Yvonne, Knapp, Rolf, Richard, Hans Helmut, Weidner, Birgit, Kasper, Johannes-Martin, Haensch, Carl-Albrecht, Fitzek, Sabine, Hartmann, Margarete, Borusiak, Peter, Müller-Deile, Andrea, Degenhardt, Volker, Korenke, Georg-Christoph, Hoppen, Thomas, Specht, Ulrich, and Gerstner, Thorsten

Published
2006

26. Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

Author

Knaus, Alexej, primary, Kortüm, Fanny, additional, Kleefstra, Tjitske, additional, Stray-Pedersen, Asbjørg, additional, Đukić, Dejan, additional, Murakami, Yoshiko, additional, Gerstner, Thorsten, additional, van Bokhoven, Hans, additional, Iqbal, Zafar, additional, Horn, Denise, additional, Kinoshita, Taroh, additional, Hempel, Maja, additional, and Krawitz, Peter M., additional

Published
2019
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28. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Author

Stray-Pedersen, Asbjørg, primary, Cobben, Jan-Maarten, additional, Prescott, Trine E., additional, Lee, Sora, additional, Cang, Chunlei, additional, Aranda, Kimberly, additional, Ahmed, Sohnee, additional, Alders, Marielle, additional, Gerstner, Thorsten, additional, Aslaksen, Kathinka, additional, Tétreault, Martine, additional, Qin, Wen, additional, Hartley, Taila, additional, Jhangiani, Shalini N., additional, Muzny, Donna M., additional, Tarailo-Graovac, Maja, additional, van Karnebeek, Clara D.M., additional, Lupski, James R., additional, Ren, Dejian, additional, and Yoon, Grace, additional

Published
2016
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31. Valproate-associated reversible encephalopathy in a 3-year-old girl with Pallister-Killian syndrome

Author

Gerstner, Thorsten

Subjects
Therapeutics and Clinical Risk Management, lipids (amino acids, peptides, and proteins)
Abstract

Thorsten Gerstner, Nellie Bell, Stephan A KoenigUniversity Children’s Hospital, Mannheim, GermanyAbstract: Valproic acid (VPA) is considered to be a drug of first choice for the therapy of generalized and focal epilepsies, including special epileptic syndromes. The drug is usually well tolerated, rare serious complications may occur in some patients, including hemorrhagic pancreatitis, coagulapathies, bone marrow suppression, VPA-induced hepatotoxicity and encephalopathy. We report a case of VPA-associated encephalopathy without hyperammonemia in a 3-year-old girl with Pallister-Killian-Syndrom, combined with a mild hepatopathy and thrombopathy. After withdrawal of VPA, the clinical symptoms and the electroencephalography-alterations vanished rapidly.Keywords: pallister-killian, valproate, encephalopathy, EEG, ammonia

Published
2008

32. Valproate-associated reversible encephalopathy in a 3-year-old girl with Pallister-Killian syndrome

Author

Gerstner,Thorsten, Bell,Nellie, Koenig,Stephan A, Gerstner,Thorsten, Bell,Nellie, and Koenig,Stephan A

Abstract

Thorsten Gerstner, Nellie Bell, Stephan A KoenigUniversity Children’s Hospital, Mannheim, GermanyAbstract: Valproic acid (VPA) is considered to be a drug of first choice for the therapy of generalized and focal epilepsies, including special epileptic syndromes. The drug is usually well tolerated, rare serious complications may occur in some patients, including hemorrhagic pancreatitis, coagulapathies, bone marrow suppression, VPA-induced hepatotoxicity and encephalopathy. We report a case of VPA-associated encephalopathy without hyperammonemia in a 3-year-old girl with Pallister-Killian-Syndrom, combined with a mild hepatopathy and thrombopathy. After withdrawal of VPA, the clinical symptoms and the electroencephalography-alterations vanished rapidly.Keywords: pallister-killian, valproate, encephalopathy, EEG, ammonia

Published
2008

40. Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

Author

Trouillard, Oriane, Koht, Jeanette, Gerstner, Thorsten, Depienne, Christel, Moland, Siri, Dusart, Isabelle, Meneret, Aurelie, Ruiz, Marta, Dubacq, Caroline, and Roze, Emmanuel

Subjects
Motor ability, Neuromuscular diseases, Corpus callosum--Abnormalities, FOS: Clinical medicine, Neurosciences, Medicine, Pyramidal tract, Movement disorders, Genetic disorders, 3. Good health
Abstract

Background: Autosomal dominant congenital mirror movements (CMM) is a neurodevelopmental disorder characterized by early onset involuntary movements of one side of the body that mirror intentional movements on the contralateral side; these persist throughout life in the absence of other neurological symptoms. The main culprit genes responsible for this condition are RAD51 and DCC. This condition has only been reported in a few families, and the molecular mechanisms linking RAD51 mutations and mirror movements (MM) are poorly understood. Methods: We collected demographic, clinical, and genetic data of a new family with CMM due to a truncating mutation of RAD51. We reviewed the literature to identify all reported patients with CMM due to RAD51 mutations. Results: We identified a heterozygous nonsense mutation c.760C>T (p.Arg254∗) in eight subjects: four with obvious and disabling MM, and four with a mild phenotype. Including our new family, we identified 32 patients from 6 families with CMM linked to RAD51 variants. Discussion: Our findings further support the involvement of RAD51 in CMM pathogenesis. Possible molecular mechanisms involved in CMM pathogenesis are discussed.

43. Establishment of the South-Eastern Norway Regional Health Authority Resource Center for Children with Prenatal Alcohol/Drug Exposure.

Author

Løhaugen GC, Flak MM, Gerstner T, Sundberg C, Lerdal B, and Skranes J

Abstract

This paper presents a new initiative in the South-Eastern Health Region of Norway to establish a regional resource center focusing on services for children and adolescents aged 2-18 years with prenatal exposure to alcohol or other drugs. In Norway, the prevalence of fetal alcohol spectrum (FAS) is not known but has been estimated to be between 1 and 2 children per 1000 births, while the prevalence of prenatal exposure to illicit drugs is unknown. The resource center is the first of its kind in Scandinavia and will have three main objectives: (1) provide hospital staff, community health and child welfare personnel, and special educators with information, educational courses, and seminars focused on the identification, diagnosis, and treatment of children with a history of prenatal alcohol/drug exposure; (2) provide specialized health services, such as diagnostic services and intervention planning, for children referred from hospitals in the South-Eastern Health Region of Norway; and (3) initiate multicenter studies focusing on the diagnostic process and evaluation of interventions.

Published
2015
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