Familial Focal Epilepsy With Variable Foci

Etiologies: Autosomal dominant inheritance, with an penetrance of about 60%, is partly related to the variation of DEPDC5 gene [1].

Age of onset: Age of seizure onset is highly variable, from infancy to adulthood.

Seizure characteristics: The focal seizures of different family members can start from different positions in the cortex. The performance and severity of affected members in the same family can be very different, but the focal epilepsy site of the same individual is constant [2-3].

EEG: Background: most are normal. Interictal: focal epileptiform discharge (frontal, temporal, parietal or occipital) can be seen in some cases, in each individual in a family the focal area remains constant over time. Ictal: it demonstrates focal ictal patterns [2-3].

Brain MRI: Mostly normal.

Developmental progress: Basically normal.

References

1. Dibbens, L.M., et al., Mutations in DEPDC5 cause familial focal epilepsy with variable foci.Nat Genet, 2013. 45(5): p. 546-51.
2. Panayiotopoulos.  癫痫综合征及临床治疗.  北京 : 人民卫生出版社, 2012.
3. 刘晓燕.  临床脑电图学. 第2版.  北京 : 人民卫生出版社, 2017.