Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.

ABSTRACT: Developmental regression describes a child who begins to lose his previously acquired milestones skills after he has reached a certain developmental stage and though affects his childhood development. It is associated with neurodegenerative diseases including leukodystrophy and neuronal ceroid lipofuscinosis diseases (NCLs), one of the most frequent childhood-onset neurodegenerative disorders. The current study focused on screening causative genes of developmental regression diseases comprising neurodegenerative disorders in Egyptian patients using next-generation sequencing (NGS)-based analyses as well as developing checklist to support clinicians who are not familiar with these diseases. A total of 763 Egyptian children (1 to 11 years), mainly diagnosed with developmental regression, sei

SUBMITTER: Refeat MM 

PROVIDER: S-EPMC9823068 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature