Article
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Epilepsia - 1 May 2024
Cetica Valentina, Pisano Tiziana, Lesca Gaetan, Marafi Dana, Licchetta Laura, Riccardi Florence, Mei Davide, Chung Hon-Yin B, Bayat Allan, Balasubramanian Meena, Lowenstein Daniel H, Endzinienė Milda, Alotaibi Maha, Villeneuve Nathalie, Jacobs Julia, Isidor Bertrand, Solazzi Roberta, den Hollander Nicolette S, Marjanovic Dragan, Rougeot-Jung Christelle, Jung Julien, Lesieur-Sebellin Marion, Accogli Andrea, Salpietro Vincenzo, Saadi Nebal W, Panagiotakaki Eleni, Foiadelli Thomas, Redon Sylvia, Tsai Meng-Han, Bisulli Francesca, Hammer Trine B, Lupski James R, Parrini Elena, Guerrini Renzo
Abstract excerpt
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....
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