Publikasjoner fra Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser

Carotid intima‐media thickness may be an early biomarker for cardiovascular risk in patients treated with ketogenic dietary therapy - Haavardsholm - Epilepsia Open - Wiley Online Library

Les om artikkelen her: 

Tidlige tegn på aterosklerose etter langtidsbehandling med ketogen diett

Surgical treatment of subependymal giant cell astrocytoma in patients with tuberous sclerosis complex-an institutional experience and results - PubMed

Les om artikkelen her:

Trygg hjernekirurgi ved tuberøs sklerose

Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice

Orphanet Journal of Rare Diseases 02.12.23, DOI: 10.1186/s13023-023-02982-1

Artikkelen var en av tre artikler inkludert i doktoravhandlingen til Ine Cockerell. Les mere om den her: Ine Cockerell disputerte med avhandling om tuberøs sklerose

The effect of attachment style on long-term outcomes in psychogenic nonepileptic seizures: Results from a prospective study

Epilepsy Behav 2022 Oct;135():108890. Epub 2022 aug 28. PMID: 36037581.

• Rare, epilepsy-related disorder including intellectual disability – A scoping review of caregivers’ identified information needs (sagepub.com). SAGE Publishing and Journal of Intellectual Disabilities, doi.org/10.1177/17446295211002348
• Epilepsi – mer enn anfall (utdanningsnytt.no). Utdanningsnytt.no (artikkelen har tidligere stått i Spesialpedagogikk nr. 5, 2019)

Pyruvatdehydrogenase-mangel – klinisk oversikt (tidsskriftet.no). Tidsskriftet Norsk Legeforening, okt. 2019, DOI: 10.4045/tidsskr.18.0988

Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study (nih.gov). BMC Nephrology 2018, doi: 10.1186/s12882-018-0835-3

• Diettbehandling av epilepsi (tidsskriftet.no). Tidsskriftet Norsk Legeforening, sept. 2017, DOI: 10.4045/tidsskr.16.0486
• Aicardi syndrome and cognitive abilities: A report of five cases (sciencedirect.com). Epilepsy & Behavior, Volume 73, August 2017, Pages 161–165. doi.org/10.1016/j.yebeh.2017.05.002
• Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway—a Questionnaire Study (sciencedirect.com). Urology, Volume 104, June 2017, Pages 70–76. doi.org/10.1016/j.urology.2017.02.023 (open access).
• GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype (sciencedirect.com). Epilepsy & Behavior, Volume 70, Part A, May 2017, Pages 1–4. doi.org/10.1016/j.yebeh.2017.02.016

• Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport (oxfordjournals.com). BRAIN 2016. doi:10.1093/brain/aww244
• Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome (karger.com). Karger, Medical and Scientific Publishers. Vol. 7, No. 4, 2016. Mol Syndromol (DOI:10.1159/000448367)
• The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions (nih.gov). Drugs. 2016 Apr.;76(5):551–65. doi: 10.1007/s40265-016-0552-9
• Plutselig, uventet epilepsirelatert død (tidsskriftet.no). Tidsskriftet Norsk Legeforening Nr. 2, 26. januar 2016; 136:131-5

• Landau-Kleffner syndrom. Klinisk oversikt (tidsskriftet.no). Tidsskriftet Norsk Legeforening Nr. 22 1. des. 2015; 135:2061 – 4
• Behandling ved psykogene ikke-epileptiske anfall (tidsskriftet.no). Tidsskriftet Norsk Legeforening Nr. 16 8. sept. 2015: 135:1449 – 51
• Aicardi Syndrome: An Epidemiologic and Clinical Study in Norway (sciencedirect.com). Pediatric Neurology 2015 Feb.: 52 182–186

• Epilepsi og stigma i populærmusikk (tidsskriftet.no). Tidsskriftet Norsk Legeforening Nr. 23/24 – 9. des. 2014; 134:2290 – 3
• Epilepsi som stigma – ond, hellig eller gal (tidsskriftet.no). Tidsskriftet Norsk Legeforening Nr. 23/24 - 9. des. 2014; 134:2328 – 30
• Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study (sciencedirect.com). Epilepsy & Behavior October 2014; 39, 111–115
• CH​D2 mutations in Lennox–Gastaut syndrome (sciencedirect.com). Epilepsy & Behavior 2014 Apr.;33:18–​21
• Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet (sciencedirect.com). Epilepsy & Behavior March 2014; 32, 76–78

Copy number variants in adult patients with Lennox–Gastaut syndrome features (sciencedirect.com). Epilepsy Research 2013 Jul.;105(1-2):110–117

Dravets syndrom som årsak til epilepsi og utviklingshemning (tidsskriftet.no). Tidsskrftet Norsk Legeforening Nr. 1 10. jan. 2012; 132:44 – 7

Tuberøs Sklerose Kompleks (TSC) – en utfordring for barnelegen (PDF). Paidos 2010;28(3):86–90

Tuberøs sklerose-kompleks – oversiktsartikkel (tidsskriftet.no). Tidsskriftet Norsk Lægeforening Nr. 7 – 29. mars 2007; 127:870 – 3