Betul Uysal

Tuebingen, BW, Germany

Last Updated: 09/26/2026

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Found 10 publications

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

Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation.

Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation.

Journal: Stem cell research

Published: October 17, 2022

Human Cerebrospinal Fluid Induces Neuronal Excitability Changes in Resected Human Neocortical and Hippocampal Brain Slices.

Human Cerebrospinal Fluid Induces Neuronal Excitability Changes in Resected Human Neocortical and Hippocampal Brain Slices.

Journal: Frontiers in neuroscience

Published: October 02, 2019

Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation.

Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation.

Journal: Stem cell research

Published: June 25, 2019

In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment.

In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment.

Journal: Stem cell reports

Published: June 24, 2019

Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease.

Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease.

Journal: eLife

Published: May 13, 2019

Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation.

Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation.

Journal: Stem cell research

Published: March 22, 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Journal: American journal of human genetics

Published: March 09, 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Journal: American journal of human genetics

Published: July 20, 2018

Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation.

Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation.

Journal: Stem cell research

Published: July 06, 2018

Showing 1-10 of 10

Last Updated: 09/26/2026