Associated Papers
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
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
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J et al.
Nature Genetics, 2014
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