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SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Pauly MG, Korenke GC, Diaw SH, Grözinger A, Cazurro-Gutiérrez A, Pérez-Dueñas B, González V, Macaya A, Serrano Antón AT, Peterlin B, Božović IB, Maver A, Münchau A, Lohmann K. Pauly MG, et al. Genes (Basel). 2023 Mar 29;14(4):822. doi: 10.3390/genes14040822. Genes (Basel). 2023. PMID: 37107582 Free PMC article. Review.
All patients carry the same recurrent, hypomorphic missense variant (NM_015836.4: c.37T>G; p.Trp13Gly) either together with a previously described truncating variant (NM_015836.4: c.797Cdel; p.Pro266ArgfsTer10), a novel truncating variant (NM_015836.4: …
All patients carry the same recurrent, hypomorphic missense variant (NM_015836.4: c.37T>G; p.Trp13Gly) either together with …
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA. Alber M, et al. Neurol Genet. 2017 May 26;3(3):e148. doi: 10.1212/NXG.0000000000000148. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28589176 Free PMC article.
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?
Schene IF, Korenke CG, Huidekoper HH, van der Pol L, Dooijes D, Breur JMPJ, Biskup S, Fuchs SA, Visser G. Schene IF, et al. JIMD Rep. 2019;45:99-104. doi: 10.1007/8904_2018_148. Epub 2018 Dec 20. JIMD Rep. 2019. PMID: 30569318 Free PMC article.
The genetic cause of his disorder (two compound heterozygous missense mutations in GBE1 (c.[760A>G] p.[Thr254Ala] and c.[1063C>T] p.[Arg355Cys])), however, was only identified at the age of 17, after panel sequencing of 314 genes associated with neuromu …
The genetic cause of his disorder (two compound heterozygous missense mutations in GBE1 (c.[760A>G] p.[Thr254Ala] and c …
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J. Owczarek-Lipska M, et al. Mol Biol Rep. 2019 Aug;46(4):4507-4516. doi: 10.1007/s11033-019-04906-4. Epub 2019 Jul 3. Mol Biol Rep. 2019. PMID: 31270756
Here we present novel compound-heterozygous mutations in the GJC2 gene identified in two, unrelated infantile patients affected with PMLD1. The heterozygous frameshift mutations c.392dupC, p.H132Afs*6 and c.989delC, p.P330Rfs*141 were found in the first patient. The …
Here we present novel compound-heterozygous mutations in the GJC2 gene identified in two, unrelated infantile patients affected with PMLD1. …
HACE1 deficiency leads to structural and functional neurodevelopmental defects.
Nagy V, Hollstein R, Pai TP, Herde MK, Buphamalai P, Moeseneder P, Lenartowicz E, Kavirayani A, Korenke GC, Kozieradzki I, Nitsch R, Cicvaric A, Monje Quiroga FJ, Deardorff MA, Bedoukian EC, Li Y, Yigit G, Menche J, Perçin EF, Wollnik B, Henneberger C, Kaiser FJ, Penninger JM. Nagy V, et al. Neurol Genet. 2019 Apr 29;5(3):e330. doi: 10.1212/NXG.0000000000000330. eCollection 2019 Jun. Neurol Genet. 2019. PMID: 31321300 Free PMC article.
Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Markus F, Angelini C, Trimouille A, Rudolf G, Lesca G, Goizet C, Lasseaux E, Arveiler B, van Slegtenhorst M, Brooks AS, Abou Jamra R, Korenke GC, Neidhardt J, Owczarek-Lipska M. Markus F, et al. Mol Genet Genomic Med. 2020 Sep;8(9):e1388. doi: 10.1002/mgg3.1388. Epub 2020 Jun 25. Mol Genet Genomic Med. 2020. PMID: 32588540 Free PMC article.
RESULTS: We identified four hemizygous sequence variants in the GABA(A) receptor subunit epsilon gene (GABRE), including one nonsense (NM_004961.3: c.399C>A, p.Tyr133*), two missense variants (NM_004961.3: c.664G>A, p.Glu222Lys; NM_004961.3: c.1045G> …
RESULTS: We identified four hemizygous sequence variants in the GABA(A) receptor subunit epsilon gene (GABRE), including one nonsense (NM_00 …
Neonatal screening for defects of the mitochondrial trifunctional protein.
Sander J, Sander S, Steuerwald U, Janzen N, Peter M, Wanders RJ, Marquardt I, Korenke GC, Das AM. Sander J, et al. Mol Genet Metab. 2005 Jun;85(2):108-14. doi: 10.1016/j.ymgme.2005.02.002. Epub 2005 Mar 24. Mol Genet Metab. 2005. PMID: 15896654
They had isolated LCHAD deficiency, four of them caused by the typical mutation (1528 G>C), three others had no molecular genetic analysis done or were shown to have previously unknown mutations. ...
They had isolated LCHAD deficiency, four of them caused by the typical mutation (1528 G>C), three others had no molecular g …
Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.
Dittrich S, Graf E, Trollmann R, Neudorf U, Schara U, Heilmann A, von der Hagen M, Stiller B, Kirschner J, Pozza RD, Müller-Felber W, Weiss K, von Au K, Khalil M, Motz R, Korenke C, Lange M, Wilichowski E, Pattathu J, Ebinger F, Wiechmann N, Schröder R; German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network. Dittrich S, et al. Orphanet J Rare Dis. 2019 May 10;14(1):105. doi: 10.1186/s13023-019-1066-9. Orphanet J Rare Dis. 2019. PMID: 31077250 Free PMC article. Clinical Trial.
Secondary: changes of a) LV-FS from baseline, b) blood pressure, c), heart rate and autonomic function in ECG and Holter-ECG, e) cardiac biomarkers and neurohumeral serum parameters, f) quality of life, and g) adverse events. ...
Secondary: changes of a) LV-FS from baseline, b) blood pressure, c), heart rate and autonomic function in ECG and Holter-ECG, e) card …
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB, Feichtinger RG, Abela L, van Gemert LA, Aubart M, Dufeu-Berat CM, Boddaert N, de Coo R, Stühn L, Hebbink J, Heinritz W, Hildebrandt J, Himmelreich N, Korenke C, Lehman A, Leyland T, Makowski C, Martinez Marin RJ, Marzin P, Mühlhausen C, Rio M, Rotig A, Roux CJ, Schiff M, Haack TB, Syrbe S, Zylicz SA, Thiel C, Veiga da Cunha M, van Schaftingen E, Wagner M, Mayr JA, Wevers RA, Boltshauser E, Willemsen MA. Wortmann SB, et al. Neurol Genet. 2024 Apr 5;10(2):e200146. doi: 10.1212/NXG.0000000000200146. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38617198 Free PMC article.
RESULTS: All individuals had recurrent variants likely causing gain-of-function, representing mutational hot spots. Eight individuals (c.1370C>T) had a developmental and epileptic encephalopathy with infantile onset and virtually no development. Of the other 7 individua …
RESULTS: All individuals had recurrent variants likely causing gain-of-function, representing mutational hot spots. Eight individuals (c …