2026-04-13T02:53:19Zhttps://recercat.cat/oai/request

oai:recercat.cat:2072/4868002025-09-17T08:40:36Zcom_2072_98col_2072_378192

Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant : description of 14 affected individuals from five families Barrachina-Esteve, Oriol Ventayol-Guirado, Marc Asensio, Victor J. Heine-Suñer, Damià Corrales, Ricardo Vidal, Noemí Ivanovski, Trajche Arbós, Clara Agirre, Maite Montalà, Carles Ballabriga, Jordi Valero, Ana Rosselló, M. Magdalena Dávila, Pablo Mestre, Margalida Sánchez, Ana Deyá, Elena Legarda, Inés Espino, Ana Olivé i Plana, Montserrat Miralles, Francesc CACNA1S Channelopathy Hypokalemic periodic paralysis Muscle MRI Myopathy Pelvic girdle myopathy Periodic paralysis Altres ajuts: acords transformatius de la UAB This study describes five families (14 individuals) with hypokalemic periodic paralysis carrying a heterozygous pathogenic variant NM_000069.3:c.2690G>A (p.Arg897Lys) in the Calcium Voltage-Gated Channel Subunit Alpha1 S (CACNA1S) gene. The clinical exam showed pelvic weakness was common (10/14, with three being too young to exclude this age-dependent myopathy). Electromyography showed myogenic changes, and the long exercise test did not reveal a significant reduction of compound muscle action potential amplitude. Muscle MRI in three patients demonstrated involvement of axial musculature, the pelvic girdle, thighs (with relative sparing of sartorius and gracilis), and legs (especially the gastrocnemius muscles). A homozygosity haplotype analysis in three families revealed a shared segment of approximately 10 million base pairs, suggesting a common ancestor 2-8 generations ago. 2025 Article https://ddd.uab.cat/record/318572 urn:10.1016/j.nmd.2025.105425 urn:oai:ddd.uab.cat:318572 urn:scopus_id:105010227635 urn:articleid:18732364v53p105425 urn:pmid:40651170 http://hdl.handle.net/2072/486800 eng Neuromuscular disorders ; Vol. 53 (august 2025), p. 105425 open access Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades. https://creativecommons.org/licenses/by-nc-nd/4.0/ application/pdf