Article
An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.
Pediatric neurology - 1 Oct 2017
Wilbur Colin, Buerki Sarah E, Guella Ilaria, Toyota Eric B, Evans Daniel M, McKenzie Marna B, Datta Anita, Michoulas Aspasia, Adam Shelin, Van Allen Margot I, Nelson Tanya N, Farrer Matthew J, Connolly Mary B, Demos Michelle
Abstract excerpt
BACKGROUND: Pathogenic heterozygous variants in the ATP1A2 gene have most commonly been associated with familial hemiplegic migraine. However, a wide spectrum of phenotypes that include alternating hemiplegia of childhood and epilepsy have been described. PATIENT DESCRIPTION: We describe a boy who presented at age three months with a complex phenotype that included epilepsy, nonepileptic paroxysmal events, and...
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