ausblenden:
Schlagwörter:
-
Zusammenfassung:
Background
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 pri-
oritized 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 candi-
date gene
HNRNPU
was the only
de novo
variant found among the followed-
up candidate genes, and the patient’s phenotype was similar to a few recent
publication
