Deniz Karadurmus

Gosselies, WAL, Belgium

Last Updated: 09/26/2026

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Found 11 publications

When Hemiplegic Migraine Defies Expectations: Diagnostic Complexity in a Rare Genetic Disorder.

When Hemiplegic Migraine Defies Expectations: Diagnostic Complexity in a Rare Genetic Disorder.

Journal: Case reports in neurology

Published: January 27, 2026

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 30, 2025

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

Journal: Clinical genetics

Published: July 28, 2023

Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.

Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.

Journal: Frontiers in neurology

Published: May 06, 2022

Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.

Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.

Journal: Frontiers in endocrinology

Published: April 25, 2022

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Journal: Molecular psychiatry

Published: April 05, 2022

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Journal: Clinical genetics

Published: March 21, 2022

ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature.

ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature.

Journal: European journal of medical genetics

Published: June 23, 2021

A second case of Okamoto syndrome caused by HNRNPK mutation.

A second case of Okamoto syndrome caused by HNRNPK mutation.

Journal: American journal of medical genetics. Part A

Published: December 31, 2019

GPRIN3 Controls Neuronal Excitability, Morphology, and Striatal-Dependent Behaviors in the Indirect Pathway of the Striatum.

GPRIN3 Controls Neuronal Excitability, Morphology, and Striatal-Dependent Behaviors in the Indirect Pathway of the Striatum.

Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience

Published: September 22, 2018

Tonically Active α2 Subunit-Containing Glycine Receptors Regulate the Excitability of Striatal Medium Spiny Neurons.

Tonically Active α2 Subunit-Containing Glycine Receptors Regulate the Excitability of Striatal Medium Spiny Neurons.

Journal: Frontiers in molecular neuroscience

Published: October 04, 2017

Showing 1-11 of 11

Last Updated: 09/26/2026