Clinical data for individuals from families with SLC32A1 variants

Jozef Gecz & Sarah Heron
Objective: To identify the causative gene in a large unsolved family with genetic epilepsy with febrile seizures plus (GEFS+), we sequenced the genomes of family members, and then determined the contribution of the identified gene to the pathogenicity of epilepsies by examining sequencing data from 2772 additional patients. Methods: We performed whole genome sequencing of three members of a GEFS+ family. Subsequently, whole exome sequencing (ES) data from 1165 epilepsy patients from the Epi4K dataset...
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5 downloads reported since publication in 2020.

These counts follow the COUNTER Code of Practice, meaning that Internet robots and repeats within a certain time frame are excluded.
What does this mean?