Myoclonus-Ataxia Syndromes: A Diagnostic Approach.
Marcelo MerelloSterre van der VeenMarcello MerelloMarina A J TijssenBart van de WarrenburgPublished 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.
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