Publikasjoner

Oversikt over artikler utgått fra Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser, eller hvor senterets ansatte er bidragsytere.

2021

Rare, epilepsy-related disorder including intellectual disability – A scoping review of caregivers’ identified information needs

SAGE Publishing and Journal of Intellectual Disabilities, doi.org/10.1177/17446295211002348

Epilepsi - mer enn anfall

Utdanningsnytt.no (artikkelen har tidligere stått i Spesialpedagogikk nr. 5, 2019)

2019

Pyruvatdehydrogenase-mangel - klinisk oversikt

Tidsskr Nor Legeforen, okt. 2019, DOI: 10.4045/tidsskr.18.0988


2018

Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study

BMC Nephrology 2018, doi: 10.1186/s12882-018-0835-3

2017

Diettbehandling av epilepsi Tidsskr Nor Legeforen, sept. 2017, DOI: 10.4045/tidsskr.16.0486

Aicardi syndrome and cognitive abilities: A report of five casesEpilepsy & 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 StudyUrology, 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 phenotypeEpilepsy & Behavior, Volume 70, Part A, May 2017, Pages 1-4
doi.org/10.1016/j.yebeh.2017.02.016

2016

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transportBRAIN 2016. doi:10.1093/brain/aww244

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi SyndromeKarger, 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 OpinionsDrugs. 2016 Apr;76(5):551-65. doi: 10.1007/s40265-016-0552-9

Plutselig, uventet epilepsirelatert dødTidsskr Nor Legeforen Nr. 2, 26. januar 2016; 136:131-5

2015

Landau-Kleffner syndrom. Klinisk oversiktTidsskr Nor Legeforen Nr. 22 1. des. 2015; 135:2061 – 4
Behandling ved psykogene ikke-epileptiske anfallTidsskr Nor Legeforen Nr. 16 8. sept 2015: 135:1449 – 51
Aicardi Syndrome: An Epidemiologic and Clinical Study in NorwayPediatric Neurology 2015 Feb.: 52 182-186

2014

Epilepsi og stigma i populærmusikkTidsskr Nor Legeforen Nr. 23/24 – 9. des. 2014; 134:2290 – 3
Epilepsi som stigma – ond, hellig eller galTidsskr Nor Legeforen 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 studyEpilepsy & Behavior October 2014; 39, 111-115
CHD2 mutations in Lennox–Gastaut syndromeEpilepsy & Behavior 2014 Apr;33:18-21
Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic dietEpilepsy & Behavior March 2014; 32, 76-78

2013

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

2012

Dravets syndrom som årsak til epilepsi og utviklingshemningTidsskr Nor Legeforen Nr. 1 10. jan. 2012; 132:44 – 7

2010

Tuberøs Sklerose Kompleks (TSC) - en utfordring for barnelegenPaidos 2010;28(3):86-90

2007

Tuberøs sklerose-kompleks - oversiktsartikkelTidsskr Nor Lægeforen Nr. 7 – 29. mars 2007; 127:870 – 3
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