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DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family Volume 21, numéro 1, February 2019

TEST YOURSELF

(1) In what other epileptic syndromes can DEPDC5 mutations be found?

(2) Can patients with DEPDC5 mutations have brain malformations?

(3) What genetic counselling would you give to a patient with DEPDC5-related epilepsy?

 

 

 

 

 

 

 

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Answers

(1) Seizure syndromes include familial focal epilepsy with variable foci (FFEVF), autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), familial mesial temporal lobe epilepsy (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), and infantile spasms.

(2) While most individuals with DEPDC5-related epilepsy have normal brain MRI, some have epilepsy associated with a cortical malformation, usually focal cortical dysplasia.

(3) Each child of a parent with DEPDC5-related epilepsy has a 50% risk of inheriting a DEPDC5 pathogenic variant.

 

 

 

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