New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

doi:10.1007/s10048-016-0496-y

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Article

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

Neurogenetics - 1 Oct 2016

Martín-Hernández Elena, Rodríguez-García María Elena, Camacho Ana, Matilla-Dueñas Antoni, García-Silva María Teresa, Quijada-Fraile Pilar, Corral-Juan Marc, Tejada-Palacios Pilar, de Las Heras Rogelio Simón, Arenas Joaquín, Martín Miguel A, Martínez-Azorín Francisco

Abstract excerpt

We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G...

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PMID: 27679995
DOI: 10.1007/s10048-016-0496-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-27679995-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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