Home > Publications > Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Many genes are candidates for involvement in epileptic encephalopathy (EE)
because one or a few possibly pathogenic variants have been found in
patients, but insufficient genetic or functional evidence exists for a definite
annotation.

Methods: To increase the number of validated EE genes, we sequenced 26 known and 351 candidate genes for EE in 360 patients. Variants in 25 genes known to be
involved in EE or related phenotypes were followed up in 41 patients. We prioritized
the candidate genes, and followed up 31 variants in this prioritized
subset of candidate genes.

Results: Twenty-nine genotypes in known genes for EE (19) or related diseases (10),dominant as well as recessive or X-linked, were classified as likely pathogenic variants. Among those, likely pathogenic de novo variants were found in EE
genes that act dominantly, including the recently identified genes EEF1A2,
KCNB1 and the X-linked gene IQSEC2. A de novo frameshift variant in candidate
gene HNRNPU was the only de novo variant found among the followedup
candidate genes, and the patient’s phenotype was similar to a few recent
publications

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