Georg-christoph Korenke
Oldenburg, NI, Germany
Last Updated: 09/26/2026
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Found 8 publications
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.
Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.
Journal: Orphanet journal of rare diseases
Published: January 24, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Journal: American journal of human genetics
Published: August 27, 2024
The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: August 02, 2024
Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family.
Journal: Frontiers in immunology
Published: June 23, 2024
Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Journal: Molecular genetics & genomic medicine
Published: February 21, 2020
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Journal: Molecular biology reports
Published: March 07, 2019
Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.
Journal: Epilepsia
Published: December 08, 2015
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Last Updated: 09/26/2026