Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy

Rong, M., Marques, P. T., Ali, Q. Z., Morcos, R., Chandran, I., Qaiser, F., Møller, R. S., Bayat, A., Rubboli, G., Gardella, E., Reuter, M. S., Sands, T. T., Scheffer, I. E., Schneider, A., Poduri, A., Wirrell, E., Nabbout, R., Sullivan, J., Valente, K., … Andrade, D. M. (2025). Variants in ATP6V0C are associated with Dravet‐like developmental and epileptic encephalopathy. Epilepsia. Portico. https://doi.org/10.1111/epi.18346
Authors:
Marlene Rong
Paula T Marques
Quratulain Zulfiqar Ali
Ricardo Morcos
Ilakkiah Chandran
Farah Qaiser
Rikke S Møller
Allan Bayat
Guido Rubboli
Elena Gardella
Miriam S Reuter
Tristan T Sands
Ingrid E Scheffer
Amy Schneider
Annapurna Poduri
Elaine Wirrell
Rima Nabbout
Joseph Sullivan
Kette Valente
Stéphane Auvin
Kelly G Knupp
Andreas Brunklaus
Ángel Aledo-Serrano
Danielle M Andrade
Affiliated Authors:
Tristan T Sands
Author Keywords:
atp6v0c
scn1a
dravet syndrome
genetic epilepsy
parkinsonism
whole exome sequencing
Publication Type:
Article
Unique ID:
10.1111/epi.18346
PMID:
Journal:
Publication Date:
Data Source:
PubMed

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