Associated Papers
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari S et al.
Genes, 2021
34680914 (PubMed )
Supplement: genes-12-01518-s001.zip › SupplementaryTableS2_26-09-2021.xlsx › CTGA-unique_variants
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.
Rahman MM et al.
Journal of Epilepsy Research, 2021
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations.
Alame S et al.
Case Reports in Medicine, 2019
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
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Djémié T et al.
Molecular Genetics & Genomic Medicine, 2016
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL et al.
Nature Genetics, 2013
23708187 (PubMed )
Supplement: NIHMS474984-supplement-1.pdf
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