Abstract
Objective
POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non-coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy. Recently, de novo heterozygous variants in POLR3B were reported in six individuals with ataxia, spasticity, and demyelinating peripheral neuropathy. Three of these individuals had epileptic seizures.
The aim of this article is to precisely define the epilepsy phenotype associated with de novo heterozygous POLR3B variants.
Methods
We used online gene-matching tools to ...
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OCT
OCT
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