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Epileptic Disorders

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Magnetoencephalogram-assisted diagnosis of familial focal epilepsy with variable foci in a Chinese family with a novel DEPDC5 mutation Volume 21, issue 3, June 2019

Figure 1

Pedigree of the Chinese FFEVF family. Affected individuals are indicated by black solid squares (males) or black solid circles (females). Unaffected individuals are indicated by open symbols. Deceased individuals are indicated by slashes (/). The proband is indicated by an arrow. Individuals with a mutation in DEPDC5 are indicated by (m/+), and individuals tested for mutations and found to be negative are indicated by (+/+). Individuals whose blood samples were unavailable are indicated by (?).

Figure 2

Neuroimaging results and interictal EEG of two drug-resistant patients. (A) MRI and MEG of proband (III-7); MRI shows no obvious lesion, however, MEG shows dipoles mainly clustered at the bottom of the right frontal lobe. (B) Interictal EEG of proband (III-7); EEG shows sharp and slow wave complexes predominantly at FP2 and bilateral sphenoid derivations. (C) MRI and MEG of individual IV-5; MRI shows no obvious lesion, however, MEG shows dipoles mainly clustered in the left parietal lobe around the angular gyrus. (D) Interictal EEG of individual IV-5; EEG shows a generalized sharp and slow wave complex.

Figure 3

DEPDC5 mutation in the FFEVF family; DNA sequence chromatograms show the mutation in DEPDC5 identified in the family studied.