Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2

By M. Fusco, R. Marconi, Laura Silvestri, L. Atorino, L. Rampoldi, L. Morgante, Andrea Ballabio, P. Aridon, G. Casari. Nature Genetics, 2003

942 citations recorded by the source corpus.

Subfields: Endocrine and Autonomic Systems, Physiology, Psychiatry and Mental health

View Paper: https://www.semanticscholar.org/paper/9c7c3f3d276c168698ccc26e69e5933821e68c59

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Physiology

1. R. Burstein
2. R. Noseda
3. P. Goadsby
4. J. Dreier

In Psychiatry and Mental health

1. P. Goadsby
2. R. Noseda
3. R. Burstein
4. J. Dreier

Citations in the corpus

• The role of spreading depression, spreading depolarization and spreading ischemia in neurological disease (2011, background): “or loss-of-function mutations in the ATP1A2 gene that encodes the A1A2 subunit of the astrocytic sodium pum”
• Migraine pathophysiology: anatomy of the trigeminovascular pathway and associated neurological symptoms, CSD, sensitization and modulation of pain (2013, background): “In agreement with the human data, mice carrying FHM mutations have shown increased susceptibility to CSD and altered synaptic transmission [36,68,125,127].”
• PATHOPHYSIOLOGY OF MIGRAINE (2006, background): “Mutations in the ATP1A2 gene (De Fusco et al, 2003) have been identified to be responsible for about 20% of FHM families.”
• Pathophysiology of Migraine: A Disorder of Sensory Processing. (2017, background): “The second FHM gene, ATP1A2, is located on chromosome 1q23 and encodes the 2 subunit of sodium-potassium pumps (203, 784).”