De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

doi:10.1093/brain/awy092

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Article

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

Brain : a journal of neurology - 1 Jun 2018

Fassio Anna, Esposito Alessandro, Kato Mitsuhiro, Saitsu Hirotomo, Mei Davide, Marini Carla, Conti Valerio, Nakashima Mitsuko, Okamoto Nobuhiko, Olmez Turker Akgun, Albuz Burcu, Semerci Gündüz C Nur, Yanagihara Keiko, Belmonte Elisa, Maragliano Luca, Ramsey Keri, Balak Chris, Siniard Ashley, Narayanan Vinodh, Ohba Chihiro, Shiina Masaaki, Ogata Kazuhiro, Matsumoto Naomichi, Benfenati Fabio, Guerrini Renzo

Abstract excerpt

V-type proton (H+) ATPase (v-ATPase) is a multi-subunit proton pump that regulates pH homeostasis in all eukaryotic cells; in neurons, v-ATPase plays additional and unique roles in synapse function. Through whole exome sequencing, we identified de novo heterozygous mutations (p.Pro27Arg, p.Asp100Tyr, p.Asp349Asn, p.Asp371Gly) in ATP6V1A, encoding the A subunit of v-ATPase, in four patients with developmental...

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PMID: 29668857
DOI: 10.1093/brain/awy092
PMCID: PMC5972584

Genes

LAMP1
EEA1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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