JLE

Epileptic Disorders

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Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis Volume 18, supplément 2, September 2016

Figure 1

Family pedigree.

Figure 2

Patient II:2. EEG showing slow background activity in the theta-delta range and low- and mid-voltage spikes, spike- and polyspike-wave discharges, with fast spike components, both diffuse or multifocal, predominant over the centro-parieto-temporal regions. Note myoclonic jerks recorded over both deltoid muscles (EMG1: right deltoid; EMG2: left deltoid).

Figure 3

Patient II:4. EEG showing slow background activity at 6 Hz mixed with low-voltage fast activity, and diffuse, irregular, spike- and polyspike-and-wave discharges at 3-4 Hz. Note myoclonic jerks recorded over the right deltoid (EMG1: right deltoid; EMG2: left deltoid).

Figure 4

Patient II:4. The same EEG recording as in Fig. 3. Diffuse, irregular spike- and polyspike-and-wave discharges provoked by IPS at 14 Hz, associated with eye closure.

Figure 5

Patient II:4. During stages N1 and N2 of sleep, low- and mid-voltage spikes, polyspikes and polyspike-wave discharges, with fast spike components, were recorded over the vertex and both centro-parietal regions.

Figure 6

Patient II:5. EEG showing slow background activity in the theta-delta range mixed with low-voltage fast activity, along with multifocal fast spikes, polyspikes and polyspike-and-wave discharges.

Figure 7

Patient II:5. EEG recorded after a GTCS showing continuous polymorphic delta activity over both frontal regions. Note myoclonic jerks recorded over both deltoid muscles (EMG1: right deltoid; EMG2: left deltoid).

Figure 8

Patient II:6.Diffuse, irregular spike- and polyspike-and-wave discharges provoked by IPS at 16 and 20 Hz, associated with eye closure.