Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.

doi:10.1016/j.braindev.2018.05.008

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Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.

Brain & development - 1 Oct 2018

Marzin Pauline, Mignot Cyril, Dorison Nathalie, Dufour Louis, Ville Dorothée, Kaminska Anna, Panagiotakaki Eleni, Dienpendaele Anne-Sophie, Penniello Marie-José, Nougues Marie-Christine, Keren Boris, Depienne Christel, Nava Caroline, Milh Mathieu, Villard Laurent, Richelme Christian, Rivier Clotilde, Whalen Sandra, Heron Delphine, Lesca Gaëtan, Doummar Diane

Abstract excerpt

OBJECTIVE: Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset dystonia-parkinsonism. Next generation sequencing allowed the description of other phenotypes, including early-onset epileptic encephalopathy in two patients. We report on three more patients carrying ATP1A3 mutations with a close...

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PMID: 29861155
DOI: 10.1016/j.braindev.2018.05.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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