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EPM1: Composed figure

(A) Archimedean spiral: drawing is invalidated by action myoclonus. (B) Somatosensory evoked potentials: stimulation of the left median nerve evokes a typical giant wave at the cortical (N33) level; Averaged polygraph: at the averaged EEG a C4 cortical spike is observed y-time before the myoclonus at the L-biceps level. (C) Sagittal midline T1 brain MRI, slight cerebellar atrophy with mild enlargement of the posterior fossa (white arrow) in an EPM1 patient. (D) Gel electrophoresis showing 2 bands of 3.6 Kb (indicative of the dodecamer expansion repeat in both mutated alleles) in the homozygous EPM1 patient, as opposed to the native 2.4 Kb bands in the normal and heterozygous carrier individuals. (Contributed by Dr. Pasquale Striano.)