Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.D285Y
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STXBP1

NM_001032221.6:p.D285Y

Associated Papers

Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.

Ding J et al.

Frontiers in Neurology, 2022

STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.

Abramov D et al.

Journal of Neurochemistry, 2021

STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?

Lanoue V et al.

Neurology, 2019

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Stamberger H et al.

Neurology, 2016

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Carvill GL et al.

Neurology, 2014

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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."