IndraLab

Statements


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"Exome sequencing identifies rare variants in epilepsy-associated genes (e.g., DEPDC5 , CHD2 ) enriched in DS patients, with SCN1A-DEPDC5 co-mutations often associated with focal cortical dysplasia."

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"The identification of mutations in DEPDC5 and SCN1A in families showing heterogeneous phenotypic patterns enlarges the phenotypic spectrum of the epilepsies associated with these genes."