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 encephalopathy with epilepsy.
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy / Fassio A; Esposito A; Kato M; Saitsu H; Mei D; Marini C; Conti V; Nakashima M; Okamoto N; olmez Turker A; Albuz B; Semerci Gunduz CN; Yanagihara K; Belmonte E; Maragliano L; Ramsey K; Balak C; Siniard A; Narayanan V;C4rcd Reserach Group ; Ohba C; Shiina M; Ogata K; matsumoto N; benfenati F; Guerrini R.. - In: BRAIN. - ISSN 1460-2156. - STAMPA. - (2018), pp. 1703-1708. [10.1093/brain/awy092]
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy
Marini C;Guerrini R.
2018
Abstract
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 encephalopathy with epilepsy.
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