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Article

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia.

Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2025

Maroofian Reza, Spoto Giulia, Moualek Dalila, Zaki Maha S, Biswas Asthik, D'Arco Felice, Biglari Sajjad, Nikuei Pooneh, Gleeson Joseph G, Tazir Meriem, Ali Pacha Lamia, Houlden Henry

Abstract excerpt

BACKGROUND: ANK3 encodes ankyrin-G, a key scaffolding protein essential for neuronal function. While both monoallelic and biallelic ANK3 variants have been linked to neurodevelopmental disorders (NDDs), existing evidence for their pathogenicity and clinical correlation remains limited and heterogeneous. OBJECTIVE: To delineate the clinical features associated with biallelic ANK3 predicted loss-of-function (pLOF)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40879451
DOI: 10.1002/mds.30324
PMCID: PMC12661628

Genes

ANK3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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