Article
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Nature genetics - 1 Sept 2012
Heinzen Erin L, Swoboda Kathryn J, Hitomi Yuki, Gurrieri Fiorella, Nicole Sophie, de Vries Boukje, Tiziano F Danilo, Fontaine Bertrand, Walley Nicole M, Heavin Sinéad, Panagiotakaki Eleni, Fiori Stefania, Abiusi Emanuela, Di Pietro Lorena, Sweney Matthew T, Newcomb Tara M, Viollet Louis, Huff Chad, Jorde Lynn B, Reyna Sandra P, Murphy Kelley J, Shianna Kevin V, Gumbs Curtis E, Little Latasha, Silver Kenneth, Ptáček Louis J, Haan Joost, Ferrari Michel D, Bye Ann M, Herkes Geoffrey K, Whitelaw Charlotte M, Webb David, Lynch Bryan J, Uldall Peter, King Mary D, Scheffer Ingrid E, Neri Giovanni, Arzimanoglou Alexis, van den Maagdenberg Arn M J M, Sisodiya Sanjay M, Mikati Mohamad A, Goldstein David B
Abstract excerpt
Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequencing of seven patients with AHC and their unaffected parents to identify de novo nonsynonymous mutations in ATP1A3 in all seven individuals. In a subsequent...
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