Varaico: Literature-Extracted Genetic Variants

Gene:STX1B
Variant:p.Q56*
Back to variants list

STX1B

NM_052874.5:p.Q56*

Associated Papers

Genetic disorders of neurotransmitter release machinery.

Uzay B et al.

Frontiers in Synaptic Neuroscience, 2023

Clinical spectrum of STX1B-related epileptic disorders.

Wolking S et al.

Neurology, 2019

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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."