Clinical and genetic spectrum of childhood-onset leukodystrophies: Findings from an in-house targeted gene panel study
Yashu Sharma, Arushi Gahlot Saini, Prateek Bhatia, Savita Verma Attri, Priyanka Srivastava, Naveen Sankhyan, Renu Suthar, Vikas Bhatia, Sameer Vyas · FENS Forum 2024
Leukodystrophies are a group of genetically determined neurodegenerative disorders that predominantly affect the white matter. We aimed to study the clinical, radiological and genetic features of childhood-onset Leukodystrophies by in-house genetic testing using a targeted genetic panel. All children with a clinico-radiological suspicion of leukodystrophy were evaluated by an in-house Ion Torrent next-generation sequencing technology. A custom gene panel was designed with the most common causes of leukodystrophies in the given setting. In the first phase, fourteen children with suspected leuko
ePoster · Neuroscience