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WOLFF , Markus

Last name: WOLFF

First name: Markus

May 2013 (v1)

Journal article

Metadata-only

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Ishida, Saeko Picard, Fabienne Rudolf, Gabrielle

The main familial focal epilepsies are autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy and familial focal epilepsy with variable foci. A frameshift mutation in the DEPDC5 gene (encoding DEP domain-containing protein 5) was identified in a family with focal epilepsy with variable foci by linkage analysis and...

Uploaded on: February 28, 2023