A5080954788- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Neurofibromatosis and Schwannoma Cases
- Hedgehog Signaling Pathway Studies
- Vascular Malformations and Hemangiomas
- Ion channel regulation and function
Centre Hospitalier Universitaire de Nantes
2022
PIK3CA-related overgrowth spectrum (PROS) includes rare genetic conditions due to gain-of-function mutations in the PIK3CA gene. There is no approved medical therapy for patients with PROS, and alpelisib, an inhibitor oncology, showed promising results preclinical models patients. Here, we report first time outcome of two infants PROS having life-threatening treated alpelisib (25 mg) monitored pharmacokinetics. Patient 1 was 8-mo-old girl voluminous vascular malformation. 2 a 9-mo-old boy...
Abstract Objective Mutations in the genes encoding neuronal ion channels are a common cause of Mendelian neurological diseases. We sought to identify novel de novo sequence variants cases with early infantile epileptic phenotypes and neurodevelopmental anomalies. Methods Following clinical diagnosis, we performed whole exome sequencing index their parents. Identified channel were expressed Xenopus oocytes functional properties assessed using two‐electrode voltage clamp. Results identified...