Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.

ABSTRACT:

Background

Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by pentanucleotide repeat expansions in different genes, have been reported. However, several other BAFME cases remain with no molecular diagnosis.

Objectives

We aim to characterize clinical features and identify the mutation causing BAFME in a large Malian family with 10 affected members.

Methods

Long-read whole genome sequencing, repeat-primed polymerase chain reaction and RNA studies were performed.

Results

We identified TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the RAI1 gene that co-segregated with disease status in this family. TTTCA repeats were absent in 200 M

SUBMITTER: Yeetong P 

PROVIDER: S-EPMC10872918 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature