Area of research
Molecular Biology · Cellular and Molecular Neuroscience
Research interest
Research interests include Medicine, Hypomagnesemia, Germline, Intellectual disability, Refractory (planetary science), and Polymicrogyria.
<i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
The α2β2 isoform combination dominates the astrocytic Na<sup>+</sup>/K<sup>+</sup>-ATPase activity and is rendered nonfunctional by the α2.G301R familial hemiplegic migraine type 2-associated mutation