DEPDC5 gene (OMIM #614191) is associated with a wide phenotypic spectrum including familial focal epilepsy with variable foci, autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy, epileptic spasms, focal cortical dysplasia and sudden unexpected death in epilepsy [1,2]. We report a patient with unilateral pachygyria and intractable epilepsy due to a de novo DEPDC5 mutation and further expand its phenotypic spectrum.

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