Publications from OUS - National Centre for Rare Epilepsy-Related Disorders
27 publications found
Publications 2025
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Surgical treatment of subependymal giant cell astrocytoma in patients with tuberous sclerosis complex-an institutional experience and results
Childs Nerv Syst, 41 (1), 126
DOI 10.1007/s00381-025-06779-4, PubMed 40035895
Publications 2024
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Pharmacokinetic variability of everolimus and impact of concomitant antiseizure medications in patients with tuberous sclerosis complex: A retrospective study of therapeutic drug monitoring data in Denmark and Norway
Medicine (Baltimore), 103 (32), e39244
DOI 10.1097/MD.0000000000039244, PubMed 39121325 -
A scoping review of health literacy in rare disorders: key issues and research directions
Orphanet J Rare Dis, 19 (1), 328
DOI 10.1186/s13023-024-03332-5, PubMed 39243094 -
[Not Available]
Tidsskr Nor Laegeforen, 144
DOI 10.4045/tidsskr.24.0645, PubMed 39817287
Publications 2023
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Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
Orphanet J Rare Dis, 18 (1), 377
DOI 10.1186/s13023-023-02982-1, PubMed 38042867 -
Adverse life events in patients with functional seizures: Assessment in clinical practice and association with long-term outcome
Epilepsy Behav, 148, 109456
DOI 10.1016/j.yebeh.2023.109456, PubMed 37804600
Publications 2022
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Brain, 145 (9), 2991-3009
DOI 10.1093/brain/awab321, PubMed 34431999 -
[A knife through the heart]
Tidsskr Nor Laegeforen, 142 (18)
DOI 10.4045/tidsskr.22.0289, PubMed 36511748
Publications 2021
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Rare, epilepsy-related disorder including intellectual disability - A scoping review of caregivers' identified information needs
J Intellect Disabil, 26 (3), 704-717
DOI 10.1177/17446295211002348, PubMed 33998344
Publications 2020
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A retrospective review of changes and challenges in the use of antiseizure medicines in Dravet syndrome in Norway
Epilepsia Open, 5 (3), 432-441
DOI 10.1002/epi4.12413, PubMed 32913951 -
Pharmacokinetic Variability During Long-Term Therapeutic Drug Monitoring of Valproate, Clobazam, and Levetiracetam in Patients With Dravet Syndrome
Ther Drug Monit, 42 (5), 744-753
DOI 10.1097/FTD.0000000000000781, PubMed 32558674
Publications 2019
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The Metamorphosis
Tidsskr. Nor. Laegeforen., 139 (7), 641-642
Publications 2018
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Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study
BMC Nephrol, 19 (1), 39
DOI 10.1186/s12882-018-0835-3, PubMed 29439672 -
Rest and Neurology: A Dream Within a Dream
Tidsskr. Nor. Laegeforen., 138 (20), 1977
Publications 2017
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Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study
Urology, 104, 70-76
DOI 10.1016/j.urology.2017.02.023, PubMed 28232177 -
Diet treatment of epilepsy
Tidsskr. Nor. Laegeforen., 137 (16), 1197-1200 -
Dietary therapy for epilepsy
Tidsskr Nor Laegeforen, 137 (16)
DOI 10.4045/tidsskr.16.0486, PubMed 28871763 -
GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype
Epilepsy Behav, 70 (Pt A), 1-4
DOI 10.1016/j.yebeh.2017.02.016, PubMed 28407523 -
Aicardi syndrome and cognitive abilities: A report of five cases
Epilepsy Behav, 73, 161-165
DOI 10.1016/j.yebeh.2017.05.002, PubMed 28641168
Publications 2016
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Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome
Mol Syndromol, 7 (4), 234-238
DOI 10.1159/000448367, PubMed 27781033
Publications 2014
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Aicardi syndrome: an epidemiologic and clinical study in Norway
Pediatr Neurol, 52 (2), 182-6.e3
DOI 10.1016/j.pediatrneurol.2014.10.022, PubMed 25443581 -
CHD2 mutations in Lennox-Gastaut syndrome
Epilepsy Behav, 33, 18-21
DOI 10.1016/j.yebeh.2014.02.005, PubMed 24614520 -
Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet
Epilepsy Behav, 32, 76-8
DOI 10.1016/j.yebeh.2014.01.003, PubMed 24508593
Publications 2013
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Seizures that are not epileptic
Tidsskr Nor Laegeforen, 133 (5), 537
DOI 10.4045/tidsskr.13.0010, PubMed 23463068
Publications 2012
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[Dravet syndrome as a cause of epilepsy and learning disability]
Tidsskr Nor Laegeforen, 132 (1), 44-7
DOI 10.4045/tidsskr.11.0539, PubMed 22240828
Publications 2011
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Landau-Kleffner syndrome in Norway: long-term prognosis and experiences with the health services and educational systems
Epilepsy Behav, 21 (2), 153-9
DOI 10.1016/j.yebeh.2011.03.019, PubMed 21514895
Publications 2002
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[Blood type diet--visionary science or nonsense?]
Tidsskr Nor Laegeforen, 122 (14), 1402-5
PubMed 12098911