Article
Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2.
European journal of medical genetics - 1 Aug 2020
Pavone Piero, Pappalardo Xena Giada, Incorpora Gemma, Falsaperla Raffaele, Marino Simona Domenica, Corsello Giovanni, Parano Enrico, Ruggieri Martino
Abstract excerpt
Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.