Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

Marcelo MerelloSterre van der VeenMarcello Merello Marina A J TijssenBart van de Warrenburg

Published in: Movement disorders clinical practice (2020)

Diagnostic algorithms for pediatric and adult patients, based on clinical manifestations including epilepsy, are proposed to guide the differential diagnosis and corresponding work-up of the most important and frequent causes of MAS. A list of genes associated with MAS to guide genetic testing strategies is provided. Priority should be given to diagnose or exclude acquired or treatable disorders.

Keyphrases

machine learning
deep learning
early onset