PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Katrine M Johannesen; Elena Gardella; Cathrine E Gjerulfsen; Allan Bayat; Rob P W Rouhl; Margot Reijnders; Sandra Whalen; Boris Keren; Julien Buratti; Thomas Courtin; Klaas J Wierenga; Bertrand Isidor; Amélie Piton; Laurence Faivre; Aurore Garde; Sébastien Moutton; Frédéric Tran-Mau-Them; Anne-Sophie Denommé-Pichon; Christine Coubes; Austin Larson; Michael J Esser; Juan Pablo Appendino; Walla Al-Hertani; Beatriz Gamboni; Alejandra Mampel; Lía Mayorga; Alessandro Orsini; Alice Bonuccelli; Agnese Suppiej; Julien Van-Gils; Julie Vogt; Simona Damioli; Lucio Giordano; Stephanie Moortgat; Elaine Wirrell; Sarah Hicks; Usha Kini; Nathan Noble; Helen Stewart; Shailesh Asakar; Julie S Cohen; SakkuBai R Naidu; Ashley Collier; Eva H Brilstra; Mindy H Li; Casey Brew; Stefania Bigoni; Davide Ognibene; Elisa Ballardini; Claudia Ruivenkamp; Raffaella Faggioli; Alexandra Afenjar; Diana Rodriguez; David Bick; Devorah Segal; David Coman; Boudewijn Gunning; Orrin Devinsky; Laurie A Demmer; Theresa Grebe; Dario Pruna; Ida Cursio; Lynn Greenhalgh; Claudio Graziano; Rahul Raman Singh; Gaetano Cantalupo; Marjolaine Willems; Sangeetha Yoganathan; Fernanda Góes; Richard J Leventer; Davide Colavito; Sara Olivotto; Barbara Scelsa; Andrea V Andrade; Kelly Ratke; Farha Tokarz; Atiya S Khan; Clothilde Ormieres; William Benko; Karen Keough; Sotirios Keros; Shanawaz Hussain; Ashlea Franques; Felicia Varsalone; Sabine Grønborg; Cyril Mignot; Delphine Heron; Caroline Nava; Arnaud Isapof; Felippe Borlot; Robyn Whitney; Anne Ronan; Nicola Foulds; Marta Somorai; John Brandsema; Katherine L Helbig; Ingo Helbig; Xilma R Ortiz-González; Holly Dubbs; Antonio Vitobello; Mel Anderson; Dominic Spadafore; David Hunt; Rikke S Møller; Guido Rubboli; PURA study group

doi:10.1212/NXG.0000000000000613

PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec.

Authors

Katrine M Johannesen¹, Elena Gardella¹, Cathrine E Gjerulfsen¹, Allan Bayat¹, Rob P W Rouhl¹, Margot Reijnders¹, Sandra Whalen¹, Boris Keren¹, Julien Buratti¹, Thomas Courtin¹, Klaas J Wierenga¹, Bertrand Isidor¹, Amélie Piton¹, Laurence Faivre¹, Aurore Garde¹, Sébastien Moutton¹, Frédéric Tran-Mau-Them¹, Anne-Sophie Denommé-Pichon¹, Christine Coubes¹, Austin Larson¹, Michael J Esser¹, Juan Pablo Appendino¹, Walla Al-Hertani¹, Beatriz Gamboni¹, Alejandra Mampel¹, Lía Mayorga¹, Alessandro Orsini¹, Alice Bonuccelli¹, Agnese Suppiej¹, Julien Van-Gils¹, Julie Vogt¹, Simona Damioli¹, Lucio Giordano¹, Stephanie Moortgat¹, Elaine Wirrell¹, Sarah Hicks¹, Usha Kini¹, Nathan Noble