This website provides information on patients with mutations in the ATP1A1 (Atpase, Na+/K+ Transporting, Alpha-1 Polypeptide; Sodium-Potassium-Atpase, Alpha-1 Polypeptide Na,K-ATPase, Alpha-A Catalytic Polypeptide) gene, including clinical data, molecular data, management and research options.
Currently, the ATP1A1-related (OMIM *182310) phenotypes include a form of axonal Charcot-Marie-Tooth neuropathy (OMIM #618036), a syndrome with hypomagnesemia, seizures and intellectual disability (OMIM #618314), and a form of complex neurodevelopmental disorder with a variable combination of developmental delay, spasticity, behavioral manifestation, sleep disorders, epilepsy. However, not all individuals with a mutation in the ATP1A1 gene have these features but they may present with a combination of some of them.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ATP1A1 gene.
Francesco Nicita, MD, PhD, Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Rome, Italy, firstname.lastname@example.org