Publications from OUS - National Centre for Rare Epilepsy-Related Disorders

29 publications found

Publications 2025

1. Haavardsholm KC, Zamani M, Skjelland M, Ramm-Pettersen A, Skagen K (2025)
   Carotid intima-media thickness may be an early biomarker for cardiovascular risk in patients treated with ketogenic dietary therapy
   Epilepsia Open (in press)
   DOI 10.1002/epi4.70152, PubMed 41026111
2. Nakken KO, Tuft M (2025)
   Is it possible to sneeze your way out of epilepsy?
   Tidsskr Nor Laegeforen, 145 (12)
   DOI 10.4045/tidsskr.25.0471, PubMed 41097958
3. Tuft M, Berger YØ, Marthinsen PB, Due-Tønnessen BJ, Frič R (2025)
   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

1. Kirkeby K, Cockerell I, Christensen J, Hoei-Hansen CE, Holst L, Fredriksen MG, Lund C, Johannessen Landmark C (2024)
   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
2. Stenberg U, Westfal L, Dybesland Rosenberger A, Ørstavik K, Flink M, Holmen H, Systad S, Westermann KF, Velvin G (2024)
   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
3. Tuft M (2024)
   Å kysse under mistelteinen
   Tidsskr Nor Laegeforen, 144
   DOI 10.4045/tidsskr.24.0645, PubMed 39817287

Publications 2023

1. Cockerell I, Christensen J, Hoei-Hansen CE, Holst L, Grenaa Frederiksen M, Issa-Epe AI, Nedregaard B, Solhoff R, Heimdal K, Johannessen Landmark C, Lund C, Nærland T (2023)
   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
2. Villagrán A, Lund C, Duncan R, Ingvar Lossius M (2023)
   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

1. Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K et al. (2022)
   Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
   Brain, 145 (9), 2991-3009
   DOI 10.1093/brain/awab321, PubMed 34431999
2. Tuft M (2022)
   [A knife through the heart]
   Tidsskr Nor Laegeforen, 142 (18)
   DOI 10.4045/tidsskr.22.0289, PubMed 36511748

Publications 2021

1. Tschamper MK, Systad S (2021)
   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

1. Heger K, Lund C, Larsen Burns M, Bjørnvold M, Sætre E, Johannessen SI, Johannessen Landmark C (2020)
   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
2. Johannessen Landmark C, Heger K, Lund C, Burns ML, Bjørnvold M, Sætre E, Johannessen SI (2020)
   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

1. Tuft M (2019)
   The Metamorphosis
   Tidsskr. Nor. Laegeforen., 139 (7), 641-642

Publications 2018

1. Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2018)
   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
2. Tuft M (2018)
   Rest and Neurology: A Dream Within a Dream
   Tidsskr. Nor. Laegeforen., 138 (20), 1977

Publications 2017

1. Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2017)
   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
2. Kverneland M, Molteberg E, Haavardsholm KC, Pedersen S, Ramm-Pettersen A, Nakken KO (2017)
   Diet treatment of epilepsy
   Tidsskr. Nor. Laegeforen., 137 (16), 1197-1200
3. Kverneland M, Molteberg E, Haavardsholm KC, Pedersen S, Ramm-Pettersen A, Nakken KO (2017)
   Dietary therapy for epilepsy
   Tidsskr Nor Laegeforen, 137 (16)
   DOI 10.4045/tidsskr.16.0486, PubMed 28871763
4. Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK (2017)
   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
5. Tuft M, Østby Y, Nakken KO, Lund C (2017)
   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

1. Lund C, Striano P, Sorte HS, Parisi P, Iacomino M, Sheng Y, Vigeland MD, Øye AM, Møller RS, Selmer KK, Zara F (2016)
   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

1. Lund C, Bjørnvold M, Tuft M, Kostov H, Røsby O, Selmer KK (2014)
   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
2. Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (2014)
   CHD2 mutations in Lennox-Gastaut syndrome
   Epilepsy Behav, 33, 18-21
   DOI 10.1016/j.yebeh.2014.02.005, PubMed 24614520
3. Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK (2014)
   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

1. Lund C, Karterud HN (2013)
   Seizures that are not epileptic
   Tidsskr Nor Laegeforen, 133 (5), 537
   DOI 10.4045/tidsskr.13.0010, PubMed 23463068

Publications 2012

1. Lund C, Bremer A, Lossius MI, Selmer KK, Brodtkorb E, Nakken KO (2012)
   [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

1. Cockerell I, Bølling G, Nakken KO (2011)
   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

1. Meltzer HM, Haugen M, Haavardsholm KC, Hagen KB, Heier HE, McKellep AM, Glørstad H, Tandberg A (2002)
   [Blood type diet--visionary science or nonsense?]
   Tidsskr Nor Laegeforen, 122 (14), 1402-5
   PubMed 12098911