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Journal Article
European journal of medical genetics, ISSN 1769-7212, 04/2019, p. 103660
PEHO syndrome is characterized by Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy, which was first described in Finnish patients. A... 
Journal Article
Journal Article
Brain: a journal of neurology, ISSN 0006-8950, 05/2017, Volume 140, Issue 5, pp. 1316 - 1336
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2016, Volume 170, Issue 8, pp. 2173 - 2176
Journal Article
by Wolff, Markus and Johannesen, Katrine M and Heich, Ulrike B S and Masnada, Silvia and Rubboli, Guido and Gardella, Elena and Lesca, Gaetan and Ville, Dorothée and Milh, Mathieu and Villard, Laurent and Afenjar, Alexana and Chantot-Bastaraud, Sana and Mignot, Cyril and Lardennois, Caroline and Nava, Caroline and Schwarz, Niklas and Gérard, Marion and Perrin, Laurence and Doummar, Diane and Auvin, Stéphane and Miranda, Maria J and Hempel, Maja and Brilstra, Eva and Knoers, Nine and Verbeek, Nienke and van Kempen, Marjan and Braun, Kees P and Mancini, Grazia and Biskup, Saskia and Hörtnagel, Konstanze and Döcker, Miriam and Bast, Thomas and Loddenkemper, Tobias and Wong-Kisiel, Lily and Baumeister, Frieich M and Fazeli, Walid and Striano, Pasquale and Dilena, Robertino and Fontana, Elena and Zara, Federico and Kurlemann, Gerhard and Klepper, Joerg and Thoene, Jess G and Arndt, Daniel H and Deconinck, Nicolas and Schmitt-Mechelke, Thomas and Maier, Oliver and Muhle, Hiltrud and Wical, Beverly and Finetti, Claudio and Brückner, Reinhard and Pietz, Joachim and Golla, Günther and Jillella, Dinesh and Linnet, Karen M and Charles, Perrine and Moog, Ute and Õiglane-Shlik, Eve and Mantovani, John F and Park, Kristen and Deprez, Marie and Lederer, Damien and Mary, Sanine and Scalais, Emmanuel and Selim, Laila and Van Coster, Rudy and Lagae, Lieven and Nikanorova, Marina and Hjalgrim, Helle and Korenke, G Christoph and Trivisano, Marina and Specchio, Nicola and Ceulemans, Berten and Dorn, Thomas and Helbig, Katherine L and Hardies, Katia and Stamberger, Hannah and de Jonghe, Peter and Weckhuysen, Sarah and Lemke, Johannes R and Krägeloh-Mann, Ingeborg and Helbig, Ingo and Kluger, Gerhard and Lerche, Holger and Møller, Rikke S
Brain, ISSN 0006-8950, 2017, Volume 140, Issue 5, pp. 1316 - 1336
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental... 
Humans | Child, Preschool | Infant | Male | NAV1.2 Voltage-Gated Sodium Channel/genetics | Sodium Channel Blockers/therapeutic use | Young Adult | Epilepsy/drug therapy | Denmark/epidemiology | Phenotype | Adolescent | Age of Onset | Adult | Female | Mutation | Child | Neurodevelopmental Disorders/genetics
Journal Article
by Wolff, Markus and Johannesen, Katrine M and Heich, Ulrike B S and Masnada, Silvia and Rubboli, Guido and Gardella, Elena and Lesca, Gaetan and Ville, Dorothée and Milh, Mathieu and Villard, Laurent and Afenjar, Alexana and Chantot-Bastaraud, Sana and Mignot, Cyril and Lardennois, Caroline and Nava, Caroline and Schwarz, Niklas and Gérard, Marion and Perrin, Laurence and Doummar, Diane and Auvin, Stéphane and Miranda, Maria J and Hempel, Maja and Brilstra, Eva and Knoers, Nine and Verbeek, Nienke and van Kempen, Marjan and Braun, Kees P and Mancini, Grazia and Biskup, Saskia and Hörtnagel, Konstanze and Döcker, Miriam and Bast, Thomas and Loddenkemper, Tobias and Wong-Kisiel, Lily and Baumeister, Frieich M and Fazeli, Walid and Striano, Pasquale and Dilena, Robertino and Fontana, Elena and Zara, Federico and Kurlemann, Gerhard and Klepper, Joerg and Thoene, Jess G and Arndt, Daniel H and Deconinck, Nicolas and Schmitt-Mechelke, Thomas and Maier, Oliver and Muhle, Hiltrud and Wical, Beverly and Finetti, Claudio and Brückner, Reinhard and Pietz, Joachim and Golla, Günther and Jillella, Dinesh and Linnet, Karen M and Charles, Perrine and Moog, Ute and Õiglane-Shlik, Eve and Mantovani, John F and Park, Kristen and Deprez, Marie and Lederer, Damien and Mary, Sanine and Scalais, Emmanuel and Selim, Laila and Van Coster, Rudy and Lagae, Lieven and Nikanorova, Marina and Hjalgrim, Helle and Korenke, G Christoph and Trivisano, Marina and Specchio, Nicola and Ceulemans, Berten and Dorn, Thomas and Helbig, Katherine L and Hardies, Katia and Stamberger, Hannah and de Jonghe, Peter and Weckhuysen, Sarah and Lemke, Johannes R and Krägeloh-Mann, Ingeborg and Helbig, Ingo and Kluger, Gerhard and Lerche, Holger and Møller, Rikke S
Brain, ISSN 0006-8950, 2017, Volume 140, Issue 5, p. 1316
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental... 
Epilepsy | Humans | Child, Preschool | Infant | Male | Young Adult | Phenotype | Adolescent | Age of Onset | Denmark | Adult | Female | Neurodevelopmental Disorders | Mutation | Sodium Channel Blockers | Child | NAV1.2 Voltage-Gated Sodium Channel
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 11, pp. 1649 - 1658
Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily affecting growth, development, and the hormonal and metabolic... 
MORTALITY | BECKWITH-WIEDEMANN-SYNDROME | MOLECULAR DIAGNOSIS | ABNORMALITIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | SILVER-RUSSELL | FREQUENCY | GENETICS & HEREDITY | ANGELMAN-SYNDROME | MALFORMATION SYNDROMES | PRADER-WILLI-SYNDROME | BIRTH PREVALENCE | Neonates | Puberty | Myoclonus | Diabetes mellitus | Imprinting | Menopause | Dystonia
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 06/2018, Volume 15, pp. 80 - 89
Reaching a genetic diagnosis of mitochondrial disorders (MDs) is challenging due to their broad phenotypic and genotypic heterogeneity. However, there is... 
Mitochondrial disorders | Whole exome sequencing | Muscle biopsy | mtDNA sequencing | READ ALIGNMENT | NUCLEAR | MUSCLE | GENETICS | DNA | DISEASE | GENETICS & HEREDITY | MUTATIONS | DIAGNOSTIC-CRITERIA | ASSOCIATION | RESPIRATORY-CHAIN DISORDERS
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 11/2019, Volume 62, Issue 11, p. 103572
Mitochondrial complex I deficiency is the most frequent mitochondrial disorder presenting in childhood and the mutational spectrum is highly heterogeneous. The... 
Congenital sideroblastic anemia | Mitochondrial complex I deficiency | NDUFB11 | Histiocytoid cardiomyopathy | PATHOGENESIS | DEFECTS | CARDIOMYOPATHY | GENETICS & HEREDITY | MICROPHTHALMIA
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2012, Volume 49, Issue 10, pp. 660 - 668
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 8/2018, Volume 33, Issue 9, pp. 587 - 592
Journal Article