Associated Papers
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.
Dahlin M et al.
Brain Communications, 2025
40290421 (PubMed )
Supplement: fcaf134_supplementary_data.zip › Dahlin_et_al._Supplementary_table_3_revised.xlsx › Bara_EP
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
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
Orrico A et al.
Clinical Genetics, 2009
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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