Hiltrud Muhle

Kiel, SH, Germany

Last Updated: 09/26/2026

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Found 76 publications

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

Journal: medRxiv : the preprint server for health sciences

Published: April 20, 2026

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.

Journal: Epilepsia

Published: February 25, 2026

STX1B variant-specific synaptic dysfunction is associated with network hyperexcitability in human iPSC-derived neurons.

STX1B variant-specific synaptic dysfunction is associated with network hyperexcitability in human iPSC-derived neurons.

Journal: EBioMedicine

Published: August 28, 2025

Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients.

Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients.

Journal: Journal of child neurology

Published: January 22, 2025

Efficacy and tolerability of fenfluramine with concomitant potassium bromide in patients with Dravet syndrome.

Efficacy and tolerability of fenfluramine with concomitant potassium bromide in patients with Dravet syndrome.

Journal: Epilepsia open

Published: January 21, 2025

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Journal: Genome medicine

Published: December 20, 2024

Impact of Video Distraction on Anxiety During Anesthesia Induction in Pediatric Patients Premedicated With Midazolam: A Randomized Controlled Trial.

Impact of Video Distraction on Anxiety During Anesthesia Induction in Pediatric Patients Premedicated With Midazolam: A Randomized Controlled Trial.

Journal: Paediatric anaesthesia

Published: December 06, 2024

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Journal: medRxiv : the preprint server for health sciences

Published: March 03, 2023

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

Journal: Annals of neurology

Published: August 02, 2022

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.

Journal: Neurology. Genetics

Published: April 22, 2022

mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data.

mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data.

Journal: Current neuropharmacology

Published: January 13, 2022

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants.

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: December 18, 2021

Showing 1-12 of 76

Last Updated: 09/26/2026