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Epileptic Disorders

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Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency Volume 20, numéro 1, February 2018

Figure 1

Ictal EEG of Case 1 (A, B) and Case 3 (C). All patients developed myoclonic seizures between one week and three months of age. Myoclonic seizures () occurred spontaneously, and also appeared in response to sudden unexpected acoustic or tactile stimuli (↑). Representative ictal EEGs are shown. In Case 1, ictal EEG reveals a diffuse irregular spike-and-wave complex corresponding to spontaneous myoclonic jerks (A) and high-voltage diffuse slow waves corresponding to stimulation-induced myoclonic jerks (B). The ictal EEG of Case 3 shows spike-and-wave complexes corresponding to spontaneous myoclonic jerks (C).

Figure 2

Brain MRI of Case 3. Initial brain MRI was normal. At five years of age, however, MRI T2-weighted images revealed high-intensity signal lesions in left posterior periventricular white matter.

Figure 3

FACS analysis (GPI anchor proteins at neutrophil membranes). Data reveal a clear decrease of CD24 and CD16 in granulocytes and CD14 in monocytes.