Publications 2023

Boen R, Kaufmann T, Frei O, van der Meer D, Djurovic S, Andreassen OA, Selmer KK, Alnæs D, Sønderby IE (2023)
No signs of neurodegenerative effects in 15q11.2 BP1-BP2 copy number variant carriers in the UK Biobank
Transl Psychiatry, 13 (1), 61
DOI 10.1038/s41398-023-02358-w, PubMed 36807331

Boen R, Kaufmann T, van der Meer D, Frei O, Agartz I, Ames D, Andersson M, Armstrong NJ, Artiges E, Atkins JR, Bauer J, Benedetti F, Boomsma DI, Brodaty H, Brosch K, Buckner RL, Cairns MJ, Calhoun V, Caspers S, Cichon S, Corvin AP, Crespo-Facorro B, Dannlowski U, David FS, de Geus EJC et al. (2023)
Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers
Biol Psychiatry, 95 (2), 147-160
DOI 10.1016/j.biopsych.2023.08.018, PubMed 37661008

Bråten LCH, Gjefsen E, Gervin K, Pripp AH, Skouen JS, Schistad E, Pedersen LM, Wigemyr M, Selmer KK, Aass HCD, Goll G, Brox JI, Espeland A, Grøvle L, Zwart JA, Storheim K, AIM-study group (2023)
Cytokine Patterns as Predictors of Antibiotic Treatment Effect in Chronic Low Back Pain with Modic Changes: Subgroup Analyses of a Randomized Trial (AIM Study)
J Pain Res, 16, 1713-1724
DOI 10.2147/JPR.S406079, PubMed 37252109

Gjefsen E, Gervin K, Bråten LCH, Goll GL, Aass HCD, Schistad EI, Wigemyr M, Pedersen LM, Skouen JS, Vigeland MD, Selmer KK, Storheim K, Zwart JA (2023)
Longitudinal changes of serum cytokines in patients with chronic low back pain and Modic changes
Osteoarthritis Cartilage, 31 (4), 543-547
DOI 10.1016/j.joca.2023.01.001, PubMed 36640896

Kverneland M, Nakken KO, Hofoss D, Skogan AH, Iversen PO, Selmer KK, Lossius MI (2023)
Health-related quality of life in adults with drug-resistant focal epilepsy treated with modified Atkins diet in a randomized clinical trial
Epilepsia, 64 (5), e69-e74
DOI 10.1111/epi.17585, PubMed 36923995

Molteberg E, Thorsby PM, Kverneland M, Iversen PO, Selmer KK, Hofoss D, Nakken KO, Taubøll E (2023)
Stress biomarkers in adult patients with drug-resistant epilepsy on a modified Atkins diet: A prospective study
Epilepsia Open, 8 (4), 1331-1339
DOI 10.1002/epi4.12808, PubMed 37574592

Pedersen S, Kverneland M, Rudi K, Gervin K, Landmark CJ, Iversen PO, Selmer KK (2023)
Decreased serum concentrations of antiseizure medications in children with drug resistant epilepsy following treatment with ketogenic diet
Epilepsia Open, 8 (3), 858-866
DOI 10.1002/epi4.12746, PubMed 37057954

Revdal E, Kolstad BP, Winsvold BS, Selmer KK, Morken G, Brodtkorb E (2023)
Psychiatric comorbidity in relation to clinical characteristics of epilepsy: A retrospective observational study
Seizure, 110, 136-143
DOI 10.1016/j.seizure.2023.06.011, PubMed 37379699

Roshandel D, Sanders EJ, Shakeshaft A, Panjwani N, Lin F, Collingwood A, Hall A, Keenan K, Deneubourg C, Mirabella F, Topp S, Zarubova J, Thomas RH, Talvik I, Syvertsen M, Striano P, Smith AB, Selmer KK, Rubboli G, Orsini A, Ng CC, Møller RS, Lim KS, Hamandi K, Greenberg DA et al. (2023)
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy
NPJ Genom Med, 8 (1), 28
DOI 10.1038/s41525-023-00370-z, PubMed 37770509

Rubboli G, Beier CP, Selmer KK, Syvertsen M, Shakeshaft A, Collingwood A, Hall A, Andrade DM, Fong CY, Gesche J, Greenberg DA, Hamandi K, Lim KS, Ng CC, Orsini A, BIOJUME Consortium , Striano P, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK (2023)
Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications
Brain Commun, 5 (3), fcad182
DOI 10.1093/braincomms/fcad182, PubMed 37361715

Wiedmann MKH, Steinsvåg IV, Dinh T, Vigeland MD, Larsson PG, Hjorthaug H, Sheng Y, Mero IL, Selmer KK (2023)
Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study
Brain Spine, 3, 101745
DOI 10.1016/j.bas.2023.101745, PubMed 37383439

Publications 2022

Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS (2022)
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
Brain, 145 (4), 1299-1309
DOI 10.1093/brain/awab391, PubMed 34633442

Molteberg E, Taubøll E, Kverneland M, Iversen PO, Selmer KK, Nakken KO, Hofoss D, Thorsby PM (2022)
Substantial early changes in bone and calcium metabolism among adult pharmacoresistant epilepsy patients on a modified Atkins diet
Epilepsia, 63 (4), 880-891
DOI 10.1111/epi.17169, PubMed 35092022

Pedersen S, Kverneland M, Nakken KO, Rudi K, Iversen PO, Gervin K, Selmer KK (2022)
Genome-wide decrease in DNA methylation in adults with epilepsy treated with modified ketogenic diet: A prospective study
Epilepsia, 63 (9), 2413-2426
DOI 10.1111/epi.17351, PubMed 35762681

Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R et al. (2022)
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
Front Cell Dev Biol, 10, 783762
DOI 10.3389/fcell.2022.783762, PubMed 35295849

Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP et al. (2022)
Sex-specific disease modifiers in juvenile myoclonic epilepsy
Sci Rep, 12 (1), 2785
DOI 10.1038/s41598-022-06324-2, PubMed 35190554

Stenshorne I, Syvertsen M, Ramm-Pettersen A, Henning S, Weatherup E, Bjørnstad A, Brüggemann N, Spetalen T, Selmer KK, Koht J (2022)
Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway
Front Pediatr, 10, 965282
DOI 10.3389/fped.2022.965282, PubMed 35979408

Stevelink R, Al-Toma D, Jansen FE, Lamberink HJ, Asadi-Pooya AA, Farazdaghi M, Cação G, Jayalakshmi S, Patil A, Özkara Ç, Aydın Ş, Gesche J, Beier CP, Stephen LJ, Brodie MJ, Unnithan G, Radhakrishnan A, Höfler J, Trinka E, Krause R, EpiPGX Consortium, Irelli EC, Di Bonaventura C, Szaflarski JP, Hernández-Vanegas LE et al. (2022)
Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis
EClinicalMedicine, 53, 101732
DOI 10.1016/j.eclinm.2022.101732, PubMed 36467455

Publications 2021

Fjær R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarström C, Sitek JC, Vigeland MD, Backe PH, Øye AM, Fosse JH, Stav-Noraas TE, Uchiyama Y, Matsumoto N, Comi A, Pevsner J, Haraldsen G, Selmer KK (2021)
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome
Hum Mol Genet, 30 (21), 1919-1931
DOI 10.1093/hmg/ddab144, PubMed 34124757

Gjefsen E, Gervin K, Goll G, Bråten LCH, Wigemyr M, Aass HCD, Vigeland MD, Schistad E, Pedersen LM, Pripp AH, Storheim K, Selmer KK, Zwart JA (2021)
Macrophage migration inhibitory factor: a potential biomarker for chronic low back pain in patients with Modic changes
RMD Open, 7 (2)
DOI 10.1136/rmdopen-2021-001726, PubMed 34344830

Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A et al. (2021)
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Nat Commun, 12 (1), 2558
DOI 10.1038/s41467-021-22627-w, PubMed 33963192

Publications 2020

Berger TC, Vigeland MD, Hjorthaug HS, Nome CG, Taubøll E, Selmer KK, Heuser K (2020)
Differential Glial Activation in Early Epileptogenesis-Insights From Cell-Specific Analysis of DNA Methylation and Gene Expression in the Contralateral Hippocampus
Front Neurol, 11, 573575
DOI 10.3389/fneur.2020.573575, PubMed 33312155

Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A et al. (2020)
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Genet Med, 22 (7), 1215-1226
DOI 10.1038/s41436-020-0792-7, PubMed 32376980

Gjefsen E, Bråten LCH, Goll GL, Wigemyr M, Bolstad N, Valberg M, Schistad EI, Marchand GH, Granviken F, Selmer KK, Froholdt A, Haugen AJ, Dagestad MH, Vetti N, Bakland G, Lie BA, Haavardsholm EA, Nilsen AT, Holmgard TE, Kadar TI, Kvien T, Skouen JS, Grøvle L, Brox JI, Espeland A et al. (2020)
The effect of infliximab in patients with chronic low back pain and Modic changes (the BackToBasic study): study protocol of a randomized, double blind, placebo-controlled, multicenter trial
BMC Musculoskelet Disord, 21 (1), 698
DOI 10.1186/s12891-020-03720-5, PubMed 33087100

Molteberg E, Thorsby PM, Kverneland M, Iversen PO, Selmer KK, Nakken KO, Taubøll E (2020)
Effects of modified Atkins diet on thyroid function in adult patients with pharmacoresistant epilepsy
Epilepsy Behav, 111, 107285
DOI 10.1016/j.yebeh.2020.107285, PubMed 32698106

Prestsæter S, Koht J, Lamari F, Tallaksen CME, Hoven STJ, Vigeland MD, Selmer KK, Rydning SL (2020)
Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5
J Neurol Sci, 419, 117211
DOI 10.1016/j.jns.2020.117211, PubMed 33160247

Shakeshaft A, Panjwani N, McDowall R, Crudgington H, Peña Ceballos J, Andrade DM, Beier CP, Fong CY, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Orsini A, Rees MI, Rubboli G, Selmer KK, Smith AB, Striano P, Syvertsen M, Talvik I, Thomas RH, Zarubova J, Richardson MP, Strug LJ et al. (2020)
Trait impulsivity in Juvenile Myoclonic Epilepsy
Ann Clin Transl Neurol, 8 (1), 138-152
DOI 10.1002/acn3.51255, PubMed 33264519

Publications 2019

Aslaksen S, Methlie P, Vigeland MD, Jøssang DE, Wolff AB, Sheng Y, Oftedal BE, Skinningsrud B, Undlien DE, Selmer KK, Husebye ES, Bratland E (2019)
Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease
Front Endocrinol (Lausanne), 10, 648
DOI 10.3389/fendo.2019.00648, PubMed 31611844

Aslaksen S, Wolff AB, Vigeland MD, Breivik L, Sheng Y, Oftedal BE, Artaza H, Skinningsrud B, Undlien DE, Selmer KK, Husebye ES, Bratland E (2019)
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease
J Transl Autoimmun, 1, 100005
DOI 10.1016/j.jtauto.2019.100005, PubMed 32743495

Berger TC, Vigeland MD, Hjorthaug HS, Etholm L, Nome CG, Taubøll E, Heuser K, Selmer KK (2019)
Neuronal and glial DNA methylation and gene expression changes in early epileptogenesis
PLoS One, 14 (12), e0226575
DOI 10.1371/journal.pone.0226575, PubMed 31887157

Holtan JP, Selmer KK, Heimdal KR, Bragadóttir R (2019)
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge
Acta Ophthalmol, 98 (3), 286-295
DOI 10.1111/aos.14218, PubMed 31429209

Kverneland M, Taubøll E, Molteberg E, Veierød MB, Selmer KK, Nakken KO, Iversen PO (2019)
Pharmacokinetic interaction between modified Atkins diet and antiepileptic drugs in adults with drug-resistant epilepsy
Epilepsia, 60 (11), 2235-2244
DOI 10.1111/epi.16364, PubMed 31602644

Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A (2019)
[Pyruvate dehydrogenase deficiency]
Tidsskr Nor Laegeforen, 139 (15)
DOI 10.4045/tidsskr.18.0988, PubMed 31642628

Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A (2019)
Pyruvate dehydrogenase deficiency
Tidsskr. Nor. Laegeforen., 139 (15), 1473-1476

Rydning SL, Koht J, Sheng Y, Sowa P, Hjorthaug HS, Wedding IM, Erichsen AK, Hovden IA, Backe PH, Tallaksen CME, Vigeland MD, Selmer KK (2019)
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
Brain, 142 (4), e12
DOI 10.1093/brain/awz041, PubMed 30847471

Publications 2018

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

Kverneland M, Molteberg E, Iversen PO, Veierød MB, Taubøll E, Selmer KK, Nakken KO (2018)
Effect of modified Atkins diet in adults with drug-resistant focal epilepsy: A randomized clinical trial
Epilepsia, 59 (8), 1567-1576
DOI 10.1111/epi.14457, PubMed 29901816

Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C (2018)
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
Eur J Neurol, 25 (7), 943-e71
DOI 10.1111/ene.13625, PubMed 29528531

Publications 2017

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

Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF (2017)
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
Eur J Hum Genet, 25 (5), 552-559
DOI 10.1038/ejhg.2017.27, PubMed 28327570

Mero IL, Mørk HH, Sheng Y, Blomhoff A, Opheim GL, Erichsen A, Vigeland MD, Selmer KK (2017)
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
Hum Mol Genet, 26 (19), 3792-3796
DOI 10.1093/hmg/ddx263, PubMed 28934391

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

Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK (2017)
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1031-1040
DOI 10.1093/hmg/ddw391, PubMed 28007905

Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK (2017)
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1217-1218
DOI 10.1093/hmg/ddx072, PubMed 28334853

Publications 2016

Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (4), 359-63
DOI 10.1002/humu.22960, PubMed 26820108

Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (7), 711
DOI 10.1002/humu.22997, PubMed 27300082

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

Moen MN, Fjær R, Hamdani EH, Laerdahl JK, Menchini RJ, Vigeland MD, Sheng Y, Undlien DE, Hassel B, Salih MA, El Khashab HY, Selmer KK, Chaudhry FA (2016)
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
Brain, 139 (Pt 12), 3109-3120
DOI 10.1093/brain/aww244, PubMed 27742667

Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM (2016)
A founder mutation p.H701P identified as a major cause of SPG7 in Norway
Eur J Neurol, 23 (4), 763-71
DOI 10.1111/ene.12937, PubMed 26756429

Syvertsen M, Hellum MK, Hansen G, Edland A, Nakken KO, Selmer KK, Koht J (2016)
Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway
Epilepsia, 58 (1), 105-112
DOI 10.1111/epi.13613, PubMed 27861775

Vigeland MD, Gjøtterud KS, Selmer KK (2016)
FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector
Bioinformatics, 32 (10), 1592-4
DOI 10.1093/bioinformatics/btw046, PubMed 26819469

Publications 2015

Fjaer R, Brodtkorb E, Øye AM, Sheng Y, Vigeland MD, Kvistad KA, Backe PH, Selmer KK (2015)
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2
Eur J Med Genet, 58 (11), 624-8
DOI 10.1016/j.ejmg.2015.10.005, PubMed 26475232

Kverneland M, Selmer KK, Nakken KO, Iversen PO, Taubøll E (2015)
A prospective study of the modified Atkins diet for adults with idiopathic generalized epilepsy
Epilepsy Behav, 53, 197-201
DOI 10.1016/j.yebeh.2015.10.021, PubMed 26588588

Wedding IM, Kroken M, Henriksen SP, Selmer KK, Fiskerstrand T, Knappskog PM, Berge T, Tallaksen CM (2015)
Friedreich ataxia in Norway - an epidemiological, molecular and clinical study
Orphanet J Rare Dis, 10, 108
DOI 10.1186/s13023-015-0328-4, PubMed 26338206

Publications 2014

Kverneland M, Taubøll E, Selmer KK, Iversen PO, Nakken KO (2014)
Modified Atkins diet may reduce serum concentrations of antiepileptic drugs
Acta Neurol Scand, 131 (3), 187-90
DOI 10.1111/ane.12330, PubMed 25312999

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

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

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

Ramm-Pettersen A, Stabell KE, Nakken KO, Selmer KK (2014)
Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study
Epilepsy Behav, 39, 111-5
DOI 10.1016/j.yebeh.2014.08.015, PubMed 25240122

Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C (2014)
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
PLoS One, 9 (1), e86340
DOI 10.1371/journal.pone.0086340, PubMed 24466038

Publications 2013

Lund C, Brodtkorb E, Røsby O, Rødningen OK, Selmer KK (2013)
Copy number variants in adult patients with Lennox-Gastaut syndrome features
Epilepsy Res, 105 (1-2), 110-7
DOI 10.1016/j.eplepsyres.2013.01.009, PubMed 23415449

Ramm-Pettersen A, Nakken KO, Skogseid IM, Randby H, Skei EB, Bindoff LA, Selmer KK (2013)
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study
Dev Med Child Neurol, 55 (5), 440-7
DOI 10.1111/dmcn.12096, PubMed 23448551

Publications 2012

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

Selmer KK, Bryne E, Rødningen OK, Fannemel M (2012)
A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures
Eur J Med Genet, 55 (12), 715-8
DOI 10.1016/j.ejmg.2012.08.005, PubMed 22975012

Syvertsen MR, Markhus R, Selmer KK, Nakken KO (2012)
[Juvenile myoclonic epilepsy]
Tidsskr Nor Laegeforen, 132 (14), 1610-3
DOI 10.4045/tidsskr.11.1518, PubMed 22875125

Publications 2011

Ramm-Pettersen A, Selmer KK, Nakken KO (2011)
[Glucose transporter protein type 1 (GLUT-1) deficiency syndrome]
Tidsskr Nor Laegeforen, 131 (8), 828-31
PubMed 21556087

Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE (2011)
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Eur J Hum Genet, 20 (1), 58-63
DOI 10.1038/ejhg.2011.126, PubMed 21712855

Publications 2009

Selmer KK, Brandal K, Olstad OK, Birkenes B, Undlien DE, Egeland T (2009)
Genome-wide linkage analysis with clustered SNP markers
J Biomol Screen, 14 (1), 92-6
DOI 10.1177/1087057108327327, PubMed 19171925

Selmer KK, Eriksson AS, Brandal K, Egeland T, Tallaksen C, Undlien DE (2009)
Parental SCN1A mutation mosaicism in familial Dravet syndrome
Clin Genet, 76 (4), 398-403
DOI 10.1111/j.1399-0004.2009.01208.x, PubMed 19673951

Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE (2009)
Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene
Acta Ophthalmol, 88 (3), 323-8
DOI 10.1111/j.1755-3768.2008.01465.x, PubMed 19183411

Selmer KK, Lund C, Brandal K, Undlien DE, Brodtkorb E (2009)
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features
Epilepsy Behav, 16 (3), 555-7
DOI 10.1016/j.yebeh.2009.08.021, PubMed 19782004

Publications 2008

Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE et al. (2008)
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Am J Hum Genet, 82 (4), 1003-10
DOI 10.1016/j.ajhg.2008.01.013, PubMed 18342287

Selmer KK, Egeland T, Solaas MH, Nakken KO, Kjeldsen MJ, Friis ML, Brandal K, Corey LA, Undlien DE (2008)
SCN1A variant in a Scandinavian GEFS+ family: a wolf in sheep's clothing? Comment
Acta Neurol. Scand., 118 (5), 346
DOI 10.1111/j.1600-0404.2008.01061.x