JLE

Epileptic Disorders

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Major intra-familial variability in Unverricht-Lundborg disease Volume 24, issue 1, February 2022

Figure 1

Family pedigree.

Figure 2

EEG of the proband and family members.EEG-EMG polygraphic records showing bilateral frontal spike-and-wave complexes in the proband (II5) (A), generalized spike-and-wave discharges with frontal predominance in her son (III5) (B).

Figure 3

C-reflex on EMG (latency at 41.4 ms) following F wave on the median nerve in the proband.

Figure 4

Gel electrophoresis of CSTB dodecamer repeats. Detection of the expanded CSTB dodecamer repeat mutation was achieved by PCR, and amplified products were analysed on a 1% agarose gel against a 100-bp DNA ladder. In lanes 2, 5 and 6, the arrow indicates a fragment of approximately 193 bp, indicating the normal allele. In lane 7, the presence of two fragments of 193 bp and 625 bp confirms that this patient is a heterozygous expansion carrier. In lane 8, the presence of the fragment of approximately 625 bp confirms that this patient is a homozygous expansion carrier.