Daniel Bamborschke
Bonn, NW, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 12 publications
Development and Adaptive Function in Individuals With SCN2A-Related Disorders.
Journal: Neurology
Published: July 22, 2025
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.
Journal: Epilepsia
Published: June 17, 2025
Biallelic CRELD1 variants cause severe muscle weakness and infantile epilepsy.
Journal: Brain communications
Published: November 05, 2024
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: August 24, 2022
Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.
Journal: European journal of ophthalmology
Published: June 02, 2021
The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: April 19, 2021
Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
Journal: American journal of medical genetics. Part A
Published: September 15, 2020
PNPT1 mutations may cause Aicardi-Goutières-Syndrome.
Journal: Brain & development
Published: May 25, 2020
Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.
Journal: American journal of medical genetics. Part A
Published: April 04, 2020
Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.
Journal: Neuropediatrics
Published: July 19, 2019
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation.
Journal: Brain & development
Published: December 15, 2017
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: July 10, 2015
Showing 1-12 of 12
Last Updated: 09/26/2026