Article
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2023
Morsy Heba, Benkirane Mehdi, Cali Elisa, Rocca Clarissa, Zhelcheska Kristina, Cipriani Valentina, Galanaki Evangelia, Maroofian Reza, Efthymiou Stephanie, Murphy David, O'Driscoll Mary, Suri Mohnish, Banka Siddharth, Clayton-Smith Jill, Wright Thomas, Redman Melody, Bassetti Jennifer A, Nizon Mathilde, Cogne Benjamin, Jamra Rami Abu, Bartolomaeus Tobias, Heruth Marion, Krey Ilona, Gburek-Augustat Janina, Wieczorek Dagmar, Gattermann Felix, Mcentagart Meriel, Goldenberg Alice, Guyant-Marechal Lucie, Garcia-Moreno Hector, Giunti Paola, Chabrol Brigitte, Bacrot Severine, Buissonnière Roger, Magry Virginie, Gowda Vykuntaraju K, Srinivasan Varunvenkat M, Melegh Béla, Szabó András, Sümegi Katalin, Cossée Mireille, Ziff Monica, Butterfield Russell, Hunt David, Bird-Lieberman Georgina, Hanna Michael, Koenig Michel, Stankewich Michael, Vandrovcova Jana, Houlden Henry
Abstract excerpt
PURPOSE: Nonerythrocytic αII-spectrin (SPTAN1) variants have been previously associated with intellectual disability and epilepsy. We conducted this study to delineate the phenotypic spectrum of SPTAN1 variants. METHODS: We carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify...
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