Work

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID

Year: 2017

Type: article

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2017.52

Authors: Silke Redler, Tim M Strom, Thomas Wieland, Kirsten Cremer, Hartmut Engels, Felix Distelmaier, Jörg Schaper, Alma Küchler, Johannes R Lemke, Stephanie Jeschke, Nicole Schreyer, Heinrich Sticht, Margarete Koch, Hermann-Josef Lüdecke, Dagmar Wieczorek

Institutions: Heinrich Heine University Düsseldorf, Helmholtz Munich, Institut für Humangenetik, University of Bonn, University of Duisburg-Essen, Leipzig University, Friedrich-Alexander-Universität Erlangen-Nürnberg, Witten/Herdecke University

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2606727528

FWCI: 2.008

Cites: 12

Cited by: 38

Related to: 10