Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia Heba Morsy , Mehdi Benkirane , Elisa Cali , Clarissa Rocca , Kristina Zhelcheska , Valentina Cipriani , Evangelia Galanaki , Reza Maroofian , Stephanie Efthymiou , David Murphy , Mary O'Driscoll , Mohnish Suri , Siddharth Banka , Jill Clayton-Smith , Thomas Wright , Melody Redman , Jennifer A Bassetti , Mathilde Nizon , Benjamin Cogne , Rami Abu Jamra , Tobias Bartolomaeus , Marion Heruth , Ilona Krey , Janina Gburek-Augustat , Dagmar Wieczorek , Felix Gattermann , Meriel Mcentagart , Alice Goldenberg , Lucie Guyant-Marechal , Hector Garcia-Moreno , Paola Giunti , Brigitte Chabrol , Severine Bacrot , Roger Buissonnière , Virginie Magry , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Béla Melegh , András Szabó , Katalin Sümegi , Mireille Cossée , Monica Ziff , Russell Butterfield , David Hunt , Georgina Bird-Lieberman , Michael Hanna , Michel Koenig , Michael Stankewich , Jana Vandrovcova , Henry Houlden Genetics in Medicine（2023）
摘要
We found that SPTAN1 is a genetic cause of neurodevelopmental disorder, which we classified into 3 distinct subgroups. The first comprises developmental epileptic encephalopathy. The second group exhibits milder phenotypes of developmental delay with or without seizures. The final group accounts for patients with pure or complex HSP/HA.
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关键词
Developmental delay, Developmental epileptic encephalopathy, Hereditary ataxia, Hereditary spastic paraplegia, SPTAN1
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