Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly

• Published in: Scientific reports Vol. 12; no. 1; p. 18984
• Main Authors: Ozawa, Junichi, Ohno, Seiko, Melgari, Dario, Wang, Qi, Fukuyama, Megumi, Toyoda, Futoshi, Makiyama, Takeru, Yoshinaga, Masao, Suzuki, Hiroshi, Saitoh, Akihiko, Ai, Tomohiko, Horie, Minoru
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 08.11.2022; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208; 692/4019; Age; Autism; Binding sites; Calcium channels; Calcium channels (voltage-gated); Cardiology; Channel gating; Congenital diseases; Electrocardiography; Genetic screening; Humanities and Social Sciences; Hypoglycemia; Immune system; Inactivation; Long QT syndrome; Medicine; multidisciplinary; Mutation; Patients; Pediatrics; Physiology; Science; Science (multidisciplinary); Seizures; Syndactyly

Timothy syndrome (TS) is a rare pleiotropic disorder associated with long QT syndrome, syndactyly, dysmorphic features, and neurological symptoms. Several variants in exon 8 or 8a of CACNA1C , a gene encoding the α-subunit of voltage-gated Ca 2+ channels (Ca v 1.2), are known to cause classical TS....