Article
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
European journal of human genetics : EJHG - 1 Feb 2024
Panagiotakaki Eleni, Tiziano Francesco D, Mikati Mohamad A, Vijfhuizen Lisanne S, Nicole Sophie, Lesca Gaetan, Abiusi Emanuela, Novelli Agnese, Di Pietro Lorena, Harder Aster V E, Walley Nicole M, De Grandis Elisa, Poulat Anne-Lise, Portes Vincent Des, Lépine Anne, Nassogne Marie-Cecile, Arzimanoglou Alexis, Vavassori Rosaria, Koenderink Jan, Thompson Christopher H, George Alfred L, Gurrieri Fiorella, van den Maagdenberg Arn M J M, Heinzen Erin L
Abstract excerpt
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopment disorder that is typically characterized by debilitating episodic attacks of hemiplegia, seizures, and intellectual disability. Over 85% of individuals with AHC have a de novo missense variant in ATP1A3 encoding the catalytic α3 subunit of neuronal Na+/K+ ATPases. The remainder of the patients are genetically unexplained. Here, we used...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.