Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.

ABSTRACT:

Background

Developmental and epileptic encephalopathies (DEEs) represent a group of severe neurological disorders characterised by an onset of refractory seizures during infancy or early childhood accompanied by psychomotor developmental delay or regression. DEEs are genetically heterogeneous with, to date, more than 80 different genetic subtypes including DEE31 caused by heterozygous missense variants in DNM1.

Methods

We performed a detailed clinical characterisation of two unrelated patients with DEE and used whole-exome sequencing to identify causative variants in these individuals. The identified variants were tested for cosegregation in the respective families.

Results

We excluded pathogenic variants in known, DEE-associated genes. We identified homozygous

SUBMITTER: Yigit G 

PROVIDER: S-EPMC9132866 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature