Thorsten Gerstner

• Gerstner, Thorsten Alfons; Henning, Oliver Johannes; Løhaugen, Gro & Skranes, Jon Sverre (2024). Reduced Inter-hemispheric coherence and cognition in children with Fetal Alcohol Spectrum Disorders (FASD) – a quantitative EEG study. Neuropediatrics. ISSN 0174-304X. doi: 10.1055/a-2262-7781.
• Gerstner, Thorsten Alfons; Henning, Oliver Johannes; Løhaugen, Gro & Skranes, Jon Sverre (2023). Frequency of epilepsy and pathological EEG findings in a Norwegian sample of children with fetal alcohol spectrum disorder: Impact on cognition and adaptive functioning. Alcoholism: Clinical and Experimental Research. ISSN 0145-6008. doi: 10.1111/acer.15247.
• Gerstner, Thorsten Alfons; Sævareid, Hans Inge; Johnsen, Åse Ribe; Løhaugen, Gro & Skranes, Jon Sverre (2023). Sleep disturbances in Norwegian children with fetal alcohol spectrum disorders (FASD) with and without a diagnosis of attention-deficit hyperactivity disorder or epilepsy. Alcoholism: Clinical and Experimental Research. ISSN 0145-6008. 47(3), p. 589–599. doi: 10.1111/acer.15009. Full text in Research Archive Show summary

  Background Fetal alcohol spectrum disorder (FASD) describes a combination of developmental, cognitive, and behavioral disabilities in children with prenatal exposure to alcohol. The literature suggests that there are higher rates of sleep disturbances in these children. Few studies have investigated sleep disturbances in relation to common comorbidities of FASD. We examined the prevalence of disturbed sleep and the relationship between parent-reported sleep problems in different FASD subgroups and comorbidities like epilepsy or attention-deficit hyperactivity disorder (ADHD) and impact on clinical functioning. Methods In this prospective cross-sectional survey, caregivers of 53 children with FASD completed the Sleep Disturbance Scale for Children (SDSC). Information about comorbidities was collected, and EEG and assessment of IQ, daily-life executive and adaptive functioning were performed. Group comparisons and ANCOVA interaction models were used to test the associations between different sleep disturbances and clinical factors that could interfere with sleep. Results An abnormal sleep score on the SDSC was very common, affecting 79% of children (n = 42) with equal prevalence in all FASD subgroups. Difficulty falling asleep was the most common sleep problem, followed by difficulty staying asleep and waking early. The incidence of epilepsy was 9.4%, with an abnormal EEG seen in 24.5%, and a diagnosis of ADHD in 47.2% of children. The distribution of these conditions was equal in all FASD subgroups. Children with signs of sleep disturbance had poorer working memory, executive function, and adaptive functioning. Children with ADHD had a greater prevalence of sleep disturbance than those without ADHD (OR 1.36; 95% CI 1.03 to 1.79). Conclusion Problems with sleep are very common in FASD children and seem independent of FASD subgroup and the presence of epilepsy or a pathological EEG finding, while those with ADHD had more sleep problems. The study underscores the importance of screening for sleep disturbances in all children with FASD as these problems may be treatable.

• de Prisco, Nicola; Ford, Caitlin; Elrod, Nathan D.; Lee, Winston; Tang, Lauren C. & Huang, Kai-Lieh [Show all 34 contributors for this article] (2023). Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Science Advances. ISSN 2375-2548. 9(7). doi: 10.1126/sciadv.ade4814. Show summary

  Alternative polyadenylation (APA) creates distinct transcripts from the same gene by cleaving the pre-mRNA at poly(A) sites that can lie within the 3' untranslated region (3'UTR), introns, or exons. Most studies focus on APA within the 3'UTR; however, here, we show that CPSF6 insufficiency alters protein levels and causes a developmental syndrome by deregulating APA throughout the transcript. In neonatal humans and zebrafish larvae, CPSF6 insufficiency shifts poly(A) site usage between the 3'UTR and internal sites in a pathway-specific manner. Genes associated with neuronal function undergo mostly intronic APA, reducing their expression, while genes associated with heart and skeletal function mostly undergo 3'UTR APA and are up-regulated. This suggests that, under healthy conditions, cells toggle between internal and 3'UTR APA to modulate protein expression.

• Jamali, Ahmed; Kristensen, Erle; Tangeraas, Trine; Arntsen, Vibeke; Sikric, Alma & Kupliauskiene, Guste [Show all 12 contributors for this article] (2023). The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study. Epilepsy Research. ISSN 0920-1211. 190. doi: 10.1016/j.eplepsyres.2023.107099. Full text in Research Archive Show summary

  Background Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures. Most cases are caused by biallelic pathogenic ALDH7A1variants. While anti-seizure medications are ineffective, pyridoxine provides seizure control, and dietary interventions may be of benefit. As the natural history beyond adolescence is insufficiently explored, our study aimed to assess the spectrum of PDE at various ages in Norway. Methods Patients were ascertained by contacting all Norwegian paediatric, neurological, and neurohabilitation departments and relevant professional societies. Medical records were collected and reviewed. Results We identified 15 patients treated for PDE; 13 had ALDH7A1 variants (PDE-ALDH7A1), one had PNPO deficiency, and in one, aetiology remained obscure. Of those with PDE-ALDH7A1, 12 were alive at time of study; five were > 18 years old and six were 1 h) or uncertain effect. Median delay from first seizure to continuous treatment was 11 days (range 0–42). Nine experienced breakthrough seizures with intercurrent disease or due to pyridoxine discontinuation. Cognitive outcomes ranged from normal to severe intellectual disability. The condition appeared to remain stable in adult life. Significance We found a much higher prevalence of PDE-ALDH7A1 in children relative to adults, suggesting previous underdiagnosis and early mortality. Perinatal complications are common and can delay diagnosis and initiation of pyridoxine treatment. Lifelong and continuous treatment with pyridoxine is imperative. Due to better diagnostics and survival, the number of adult patients is expected to rise.

• Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten Alfons; Toutain, Annick; Lynch, Sally Ann & Stals, Karen [Show all 43 contributors for this article] (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human Molecular Genetics. ISSN 0964-6906. 31(3), p. 440–454. doi: 10.1093/hmg/ddab265.
• Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B. S. & Lerche, Holger [Show all 23 contributors for this article] (2021). KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. Human Molecular Genetics. ISSN 0964-6906. 30(23), p. 2300–2314. doi: 10.1093/hmg/ddab192. Show summary

  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 α-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 β-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 β-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 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.

• Bjørk, Marte-Helene; Gerstner, Thorsten Alfons & Taubøll, Erik (2020). Treating women of reproductive age with valproate. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 2020(7), p. 1–6. doi: 10.4045/tidsskr.19.0767.
• Bjørk, Marte-Helene; Gerstner, Thorsten Alfons & Taubøll, Erik (2020). M.H. Bjørk og medarbeidere svarer. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 140(9), p. 1–2. doi: 10.4045/tidsskr.20.0453. Full text in Research Archive
• Klingenberg, Claus; Mosulet, George Vladimir; Hjalgrim, Helle & Gerstner, Thorsten (2020). A Survey on Cannabinoid Treatment of Pediatric Epilepsy Among Neuropediatricians in Scandinavia and Germany. Frontiers in pediatrics. ISSN 2296-2360. 8. doi: 10.3389/fped.2020.00416. Full text in Research Archive
• Knaus, Alexej; Kortüm, Fanny; Kleefstra, Tjitske; Stray-Pedersen, Asbjørg; Dukic, Dejan & Murakami, Yoshiko [Show all 13 contributors for this article] (2019). Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. American Journal of Human Genetics. ISSN 0002-9297. 105(2), p. 395–402. doi: 10.1016/j.ajhg.2019.06.009.
• Stray-Pedersen, Asbjørg; Cobben, JM; Prescon, Trine; Lee, S; Cang, C & Aranda, K [Show all 20 contributors for this article] (2016). Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. American Journal of Human Genetics. ISSN 0002-9297. 98(1), p. 202–209. doi: 10.1016/j.ajhg.2015.11.004.
• Løhaugen, Gro; Flak, Marianne Møretrø; Gerstner, Thorsten; Sundberg, Cato; Lerdal, Bjørn & Skranes, Jon Sverre (2015). Establishment of South-Eastern Norway Regional Health Authority Resource centre for children with prenatal alcohol/drug exposure. Substance Abuse. ISSN 0889-7077. 9, p. 67–75. doi: 10.4137/SART.S23542.
• Gerstner, Thorsten Alfons; Sprenger, Jana; Schaible, Thomas; Weiss, Christel & Koenig, S (2010). [Maturation of the autonomic nervous system: differences in heart rate variability at different gestational weeks]. Zeitschrift für Geburtshilfe und Neonatologie. ISSN 0948-2393. 214(1), p. 11–14.
• Koenig, S; Gerstner, Thorsten Alfons; Keller, A.; Teich, M. & Dempfle, C E (2008). High incidence of vaproate-induced coagulation disorders in children receiving valproic acid: a prospective study. Blood Coagulation and Fibrinolysis. ISSN 0957-5235. 8(19), p. 375–382.
• Gerstner, Thorsten Alfons; Bell, N & Koenig, S (2008). Oral valproic acid for epilepsy--long-term experience in therapy and side effects. Expert Opinion on Pharmacotherapy. ISSN 1465-6566. 3(9), p. 285–292.
• Gerstner, Thorsten Alfons; Teich, M.; Bell, N; Dempfle, C E; Brand, J & Koenig, S (2006). Valproate-associated coagulopathies are frequent and variable in children . Epilepsia. ISSN 0013-9580. 47(7), p. 1136–1143.

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• Tveiten, Anne Cecilie; Løhaugen, Gro; Gerstner, Thorsten Alfons; Eikeland, Randi & Skranes, Jon Sverre (2023). Presentation of a newly developed follow-up program based on psychoeducation of parents of children and adolescents with Fetal Alcohol Spectrum Disorder (FASD). .
• Gerstner, Thorsten Alfons; Henning, Oliver Johannes; Løhaugen, Gro & Skranes, Jon Sverre (2023). Prevalence of epilepsy and pathological EEG in a Norwegian sample of children with fetal alcohol spectrum disorder (FASD): Impact on cognition and adaptive functioning. .
• Jamali, Ahmed; Kristensen, Erle; Tangeraas, Trine; Arntsen, Vibeke; SIKIRIC, ALMA & Kupliauskiene, Guste [Show all 12 contributors for this article] (2023). Corrigendum to “The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study” [Epilepsy Res. 190 (2023) 107099] (Epilepsy Research (2023) 190, (S0920121123000244), (10.1016/j.eplepsyres.2023.107099)). Epilepsy Research. ISSN 0920-1211. doi: 10.1016/j.eplepsyres.2023.107113.
• Tveiten, Anne Cecilie; Løhaugen, Gro; Gerstner, Thorsten Alfons & Skranes, Jon Sverre (2022). Presentation of a newly developed treatment program based on psychoeducation of parents of children and adolescents with Fetal Alcohol Spectrum Disorder (FASD). .
• Gerstner, Thorsten Alfons; Henning, Oliver Johannes; Løhaugen, Gro & Skranes, Jon Sverre (2022). Epilepsy and pathological EEG findings in children with Fetal alcohol spectrum disorder (FASD).
• Gerstner, Thorsten Alfons; Sævareid, Hans Inge; Johnsen, Åse Ribe; Løhaugen, Gro & Skranes, Jon Sverre (2022). Sleep disturbance in children with Fetal Alcohol Spectrum Disorders with and without comorbidities. .
• Løhaugen, Gro; Gerstner, Thorsten Alfons; Tveiten, Anne Cecilie & Skranes, Jon Sverre (2022). IQ in children with Fetal Alcohol Spectrum Disorders (FASD) assessed at the Norwegian resource center for children with prenatal alcohol and/or drug exposure. .
• Løhaugen, Gro; Gerstner, Thorsten Alfons; Tveiten, Anne Cecilie & Skranes, Jon Sverre (2022). Adaptive behavior in Norwegian children with FASD assessed at the Norwegian resource center for children with prenatal alcohol and/or drug exposure. .
• Løhaugen, Gro; Gerstner, Thorsten Alfons; Tveiten, Anne Cecilie & Skranes, Jon Sverre (2022). Experienced-based intervention for children with FASD and their families. .
• Gerstner, Thorsten; Moland, Siri & Koht, Jeanette (2015). Congenital mirror movements of the hands. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 135(20), p. 1852–1852. doi: 10.4045/tidsskr.15.0733.

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