Associated Papers
Generation of an induced pluripotent stem cell (iPSC) line carrying a KCNA2 homozygous (p.Arg294His, R294H) mutation related to hereditary spastic paraplegia.
Lyu H et al.
Stem Cell Research, 2025
Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation.
Haag C et al.
Stem Cell Research, 2023
Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.
Vardar G et al.
Brain : a Journal of Neurology, 2020
Clinical spectrum of STX1B-related epileptic disorders.
Wolking S et al.
Neurology, 2019
The genetics and molecular biology of fever-associated seizures or epilepsy.
Deng H et al.
Expert Reviews in Molecular Medicine, 2018
Motor cortex excitability in seizure-free STX1B mutation carriers with a history of epilepsy and febrile seizures.
Stefanou MI et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2017
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J et al.
Nature Genetics, 2014
Select a paper to view details