Valentina Cetica, Tiziana Pisano, Gaetan Lesca, Dana Marafi, Laura Licchetta, Florence Riccardi, Davide Mei, Hon-Yin B Chung, Allan Bayat, Meena Balasubramanian, Daniel H Lowenstein, Milda Endzinienė, Maha Alotaibi, Nathalie Villeneuve, Julia Jacobs, Bertrand Isidor, Roberta Solazzi, Nicolette S den Hollander, Dragan Marjanovic, Christelle Rougeot-Jung, Julien Jung, Marion Lesieur-Sebellin, Andrea Accogli, Vincenzo Salpietro, Nebal W Saadi, Eleni Panagiotakaki, Thomas Foiadelli, Sylvia Redon, Meng-Han Tsai, Francesca Bisulli, Trine B Hammer, James R Lupski, Elena Parrini, Renzo Guerrini
OBJECTIVE: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy. METHODS: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG...
March 16, 2024: Epilepsia