Epileptic Disorders
MENUATP6V1B2-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?
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.