Kaja K. Selmer
Position: Group leader
Phone: +47 221 19889
Email:
 

Author network for Kaja K. Selmer by COREMINE medical


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 (in press)
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
PubMed 28327570

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 (in press)
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), 1217-1218
PubMed 28334853

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
PubMed 28007905

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
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
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
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
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
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
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
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
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
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
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
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
PubMed 25443581

Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (2014)
CHD2 mutations in Lennox-Gastaut syndrome
Epilepsy Behav, 33, 18-21
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
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
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
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
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
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
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
PubMed 22975012

Syvertsen MR, Markhus R, Selmer KK, Nakken KO (2012)
[Juvenile myoclonic epilepsy]
Tidsskr Nor Laegeforen, 132 (14), 1610-3
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
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
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
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
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
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
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