Kim M. Thalwitzer

Heidelberg, BW, Germany

Last Updated: 09/26/2026

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Found 8 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

Early life seizures and epileptic spasms in STXBP1-related disorders.

Early life seizures and epileptic spasms in STXBP1-related disorders.

Journal: medRxiv : the preprint server for health sciences

Published: July 10, 2023

Early life seizures and epileptic spasms in STXBP1-related disorders.

Early life seizures and epileptic spasms in STXBP1-related disorders.

Journal: Epilepsia

Published: July 09, 2023

Delineating clinical and developmental outcomes in STXBP1-related disorders.

Delineating clinical and developmental outcomes in STXBP1-related disorders.

Journal: medRxiv : the preprint server for health sciences

Published: May 22, 2023

Delineating clinical and developmental outcomes in STXBP1-related disorders.

Delineating clinical and developmental outcomes in STXBP1-related disorders.

Journal: Brain : a journal of neurology

Published: May 10, 2023

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.

Journal: Neurology

Published: December 14, 2022

A disease concept model for STXBP1-related disorders.

A disease concept model for STXBP1-related disorders.

Journal: Epilepsia open

Published: August 10, 2022

Assessing the landscape of STXBP1-related disorders in 534 individuals.

Assessing the landscape of STXBP1-related disorders in 534 individuals.

Journal: Brain : a journal of neurology

Published: March 30, 2021

Showing 1-8 of 8

Last Updated: 09/26/2026