Associated Papers
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Balestrini S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS
First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.
Avdjieva-Tzavella DM et al.
Genetic Counseling (geneva, Switzerland), 2014
One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.
Yordanova I et al.
Neuroscience Letters, 2011
BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.
Avdjieva-Tzavella DM et al.
Genetic Counseling (geneva, Switzerland), 0
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