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ATP6V1B2-related epileptic encephalopathy Volume 22, numéro 3, June 2020

TEST YOURSELF

(1) What are the main clinical characteristics of ATP6V1B2-related phenotypes?

 

(2) Mutations in which other gene determine an ATP6V1B2-like phenotype?

 

(3) What is the known function of ATP6V1B2?

 

 

 

 

 

 

 

 

 

 

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Answers

(1) Gingival hyperplasia, hypertrichosis, onychodystrophy.

 

(2) KCNH1.

 

(3) It encodes the lysosomal ion pump needed to maintain low pH, required for activation of hydrolase.

 

 

 

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