4 results match your criteria: "University Medical Faculty Giessen and Marburg[Affiliation]"
Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.
PLoS One
July 2016
Cologne Center for Genomics, University of Cologne, 50931, Cologne, Germany.
Massively parallel sequencing of whole genomes and exomes has facilitated a direct assessment of causative genetic variation, now enabling the identification of genetic factors involved in rare diseases (RD) with Mendelian inheritance patterns on an almost routine basis. Here, we describe the illustrative case of a single consanguineous family where this strategy suffered from the difficulty to distinguish between two etiologically distinct disorders, namely the co-occurrence of hereditary hypophosphatemic rickets (HRR) and congenital myopathies (CM), by their phenotypic manifestation alone. We used parametric linkage analysis, homozygosity mapping and whole exome-sequencing to identify mutations underlying HRR and CM.
View Article and Find Full Text PDFSimultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
EMBO Mol Med
December 2015
Department of Chemistry, Institute of Biochemistry University of Cologne, Cologne, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) University of Cologne, Cologne, Germany
Synaptic inhibition is essential for shaping the dynamics of neuronal networks, and aberrant inhibition plays an important role in neurological disorders. Gephyrin is a central player at inhibitory postsynapses, directly binds and organizes GABAA and glycine receptors (GABAARs and GlyRs), and is thereby indispensable for normal inhibitory neurotransmission. Additionally, gephyrin catalyzes the synthesis of the molybdenum cofactor (MoCo) in peripheral tissue.
View Article and Find Full Text PDFInvestigation of GRIN2A in common epilepsy phenotypes.
Epilepsy Res
September 2015
Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany. Electronic address:
Recently, mutations and deletions in the GRIN2A gene have been identified to predispose to benign and severe idiopathic focal epilepsies (IFE), revealing a higher incidence of GRIN2A alterations among the more severe phenotypes. This study aimed to explore the phenotypic boundaries of GRIN2A mutations by investigating patients with the two most common epilepsy syndromes: (i) idiopathic generalized epilepsy (IGE) and (ii) temporal lobe epilepsy (TLE). Whole exome sequencing data of 238 patients with IGE as well as Sanger sequencing of 84 patients with TLE were evaluated for GRIN2A sequence alterations.
View Article and Find Full Text PDF16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Hum Mol Genet
November 2014
Department of Neuropediatrics, University Medical Faculty Giessen and Marburg, Giessen, Germany.
Article Synopsis
- Rolandic epilepsy (RE) is the most common form of childhood epilepsy, but its genetic causes are not fully understood, prompting research into specific genetic variants linked to neurodevelopmental disorders.
- Studies found a significant association between a 600 kb genomic duplication at the 16p11.2 locus and an increased risk of RE in a group of 393 patients compared to a large European control population.
- The 16p11.2 duplication is specifically enriched in idiopathic focal childhood epilepsies, highlighting it as a significant genetic risk factor for typical and atypical RE.