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A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome Volume 21, numéro 1, February 2019

TEST YOURSELF

(1) Which of the following statements about families with BFNE carrying KCNQ3 pathogenic variants is correct?

A. About 15% show complete penetrance

B. About 10% show incomplete penetrance

C. About 5% show incomplete penetrance

(2) Which of the following statements about BFNE associated with KCNQ3 mutations is not correct?

A. BFNE associated with KCNQ3 mutation is an autosomal dominant epilepsy syndrome

B. KCNQ3 mutations are always associated with severe phenotypes

C. The phenotypic spectrum associated with KCNQ3 and KCNQ2 mutations is similar.

 

 

 

 

 

 

 

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Answers

(1) C.

(2) B.

 

 

 

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