ATP6V1B2‐related epileptic encephalopathy

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 m...

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Veröffentlicht in:	Epileptic disorders 2020-06, Vol.22 (3), p.317-322
Hauptverfasser:	Inuzuka, Luciana Midori, Macedo‐Souza, Lúcia Inês, Della‐Rippa, Bruno, Monteiro, Fabiola Paoli, Delgado, Daniel de Souza, Godoy, Luis Filipe, Ramos, Luiza, Athayde Costa, Larissa Sampaio, Garzon, Eliana, Kok, Fernando
Format:	Artikel
Sprache:	eng
Schlagworte:	ATP6V1B2 Case reports Cognitive ability Deafness Developmental Disabilities - genetics dominant deafness onychodystrophy Encephalopathy Epilepsy Epilepsy - genetics epileptic encephalopathy Humans Infant, Newborn Microcephaly - genetics Microencephaly Phenotypes Syndrome Vacuolar Proton-Translocating ATPases - genetics Whole Exome Sequencing Zimmermann‐Laband syndrome 1 Zimmermann‐Laband syndrome 2
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