Erik Riesch
Tuebingen, BW, Germany
Last Updated: 09/26/2026
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Found 9 publications
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Journal: American journal of medical genetics. Part A
Published: May 01, 2019
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Journal: Journal of neurochemistry
Published: May 07, 2017
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Journal: Neurology
Published: September 23, 2015
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Journal: PloS one
Published: June 16, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Journal: Nature genetics
Published: July 09, 2014
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Journal: Nature genetics
Published: February 13, 2014
DEPDC5 mutations in genetic focal epilepsies of childhood.
Journal: Annals of neurology
Published: October 20, 2013
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
Journal: Journal of medical genetics
Published: June 14, 2012
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Journal: Epilepsia
Published: May 23, 2012
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Last Updated: 09/26/2026