Joerg Klepper

Aschaffenburg, BY, Germany

Last Updated: 09/26/2026

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Found 44 publications

Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

Journal: Neuropediatrics

Published: June 18, 2026

Correction: Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.

Correction: Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.

Journal: Clinical epigenetics

Published: June 13, 2026

"Not always the magic bullet"-Insufficient seizure control by ketogenic dietary therapies in Glut1 Deficiency Syndrome.

"Not always the magic bullet"-Insufficient seizure control by ketogenic dietary therapies in Glut1 Deficiency Syndrome.

Journal: Epilepsia open

Published: November 22, 2025

Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.

Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.

Journal: Clinical epigenetics

Published: August 27, 2025

Toward a working definition of ketogenic diet resistance in GLUT1 deficiency syndrome.

Toward a working definition of ketogenic diet resistance in GLUT1 deficiency syndrome.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: July 21, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.

Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.

Journal: Journal of inherited metabolic disease

Published: February 07, 2025

Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal.

Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal.

Journal: Epilepsia open

Published: May 05, 2024

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

Journal: EBioMedicine

Published: January 05, 2024

Diagnosis and treatment of growth hormone deficiency in children on the ketogenic diet: A case series.

Diagnosis and treatment of growth hormone deficiency in children on the ketogenic diet: A case series.

Journal: Epilepsia open

Published: October 20, 2023

Timing of Ketogenic Dietary Therapy (KDT) Introduction and Its Impact on Cognitive Profiles in Children with Glut1-DS-A Preliminary Study.

Timing of Ketogenic Dietary Therapy (KDT) Introduction and Its Impact on Cognitive Profiles in Children with Glut1-DS-A Preliminary Study.

Journal: Children (Basel, Switzerland)

Published: March 05, 2023

Showing 1-12 of 44

Last Updated: 09/26/2026