Familial focal epilepsy with variable foci

Definition:

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Recently, it has been identified that mutations in the mTOR pathway regulators, DEPDC5, NPRL2 and NPRL3 cause this disease.

References:

[1]. Carlos G Vanoye, et al. Novel SCN3A variants associated with focal epilepsy in children. Neurobiol Dis. 2014 Feb;62:313-22. [Content Brief]

[2]. Karl Martin Klein, et al. Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum. Epilepsia. 2012 Aug;53(8):e151-5. [Content Brief]

[3]. Michael G Ricos, et al. Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Ann Neurol. 2016 Jan;79(1):120-31. [Content Brief]

[4]. Stéphanie Baulac, et al. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol. 2015 Apr;77(4):675-83. [Content Brief]

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