TY  - BOOK
AU  - Midori Inuzuka,Luciana
AU  -  Macedo-Souza,Lúcia Inês
AU  -  Della-Rippa,Bruno
AU  -  Paoli Monteiro,Fabiola
AU  -  de Souza Delgado,Daniel
AU  -  Godoy,Luis Filipe
AU  -  Ramos,Luiza
AU  -  Sampaio de Athayde Costa,Larissa
AU  -  Garzon,Eliana
AU  -  Kok,Fernando
TI  - ATP6V1B2-related epileptic encephalopathy
PY  - 2020///.
							
N1  - 19
N2  - ATP6V1B2 encodes a subunit of the lysosomal transmembrane proton pump necessary for adequate functioning of several acid hydrolases. De novo monoallelic variants of this gene have been associated with two distinct phenotypes: Zimmermann-Laband syndrome 2 (ZLS2), an intellectual deficiency/multiple malformation syndrome, and dominant deafness onychodystrophy (DDOD), a multiple malformation syndrome without cognitive involvement. Epilepsy is not observed in DDOD, is variably present in ZLS2, but is a common feature in Zimmermann-Laband syndrome 1 (ZLS1) (caused by monoallelic pathogenic variants in KCNH1) and Zimmermann-Laband syndrome-like (ZLSL) (associated with KCNK4 variants) .Herein, we report a case of an infant with severe epileptic encephalopathy with microcephaly and profound developmental delay, associated with a novel de novo loss-of-function variant in ATP6V1B2, diagnosed by whole-exome sequencing. This finding expands the spectrum of ATP6V1B2-associated disorders and adds ATP6V1B2 as a new member for the growing list of early-onset epileptic encephalopathy genes. [ Published with video sequence]
UR  - https://shs.cairn.info/revue-epileptic-disorders-2020-3-page-317?lang=en&redirect-ssocas=7080
ER  -