Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

doi:10.1186/s13023-018-0825-3

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Article

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

Orphanet journal of rare diseases - 31 May 2018

McMillan Hugh J, Telegrafi Aida, Singleton Amanda, Cho Megan T, Lelli Daniel, Lynn Francis C, Griffin Julie, Asamoah Alexander, Rinne Tuula, Erasmus Corrie E, Koolen David A, Haaxma Charlotte A, Keren Boris, Doummar Diane, Mignot Cyril, Thompson Islay, Velsher Lea, Dehghani Mohammadreza, Vahidi Mehrjardi Mohammad Yahya, Maroofian Reza, Tchan Michel, Simons Cas, Christodoulou John, Martín-Hernández Elena, Guillen Sacoto Maria J, Henderson Lindsay B, McLaughlin Heather, Molday Laurie L, Molday Robert S, Yoon Grace

Abstract excerpt

BACKGROUND: ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations. METHODS: An observational study was conducted at multiple diagnostic centres. Clinical data is presented from 9 unreported and 2 previously reported patients with ATP8A2...

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Identifiers

PMID: 30012219
DOI: 10.1186/s13023-018-0825-3
PMCID: PMC6048855

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