A new form of alpha‐dystroglycanopathy associated with severe drug‐resistant epilepsy and unusual EEG features

ABSTRACT We describe two unrelated girls with congenital muscular dystrophy associated with alpha‐dystroglycan deficit with no identified genetic defect, both presenting severe drug‐resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker‐Warburg, Fukuyama and muscle‐eye‐brain diseases. [Published with video sequences]