A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Autor: Sampedro Castañeda, Marisol, Zanoteli, Edmar, Scalco, Renata S., Scaramuzzi, Vinicius, Marques Caldas, Vitor, Conti Reed, Umbertina, da Silva, Andre Macedo Serafim, O'Callaghan, Benjamin, Phadke, Rahul, Bugiardini, Enrico, Sud, Richa, McCall, Samuel, Hanna, Michael G., Poulsen, Hanne, Männikkö, Roope, Matthews, Emma

Publikováno v: Sampedro Castañeda, M, Zanoteli, E, Scalco, R S, Scaramuzzi, V, Marques Caldas, V, Conti Reed, U, da Silva, A M S, O'Callaghan, B, Phadke, R, Bugiardini, E, Sud, R, McCall, S, Hanna, M G, Poulsen, H, Männikkö, R & Matthews, E 2018, ' A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms ', Brain : a journal of neurology, vol. 141, no. 12, pp. 3308-3318 . https://doi.org/10.1093/brain/awy283
Brain

Sampedro Castaneda et al. describe a boy with hypokalaemic periodic paralysis (hypoPP) and epilepsy without mutations in known risk genes. They show that a de novo mutation in ATP1A2, encoding a Na+/K+-ATPase subunit, gives rise to an inward cation l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1045f7de97d65743533ff8d26a02c2c9
https://pure.au.dk/ws/files/138771007/awy283.pdf

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A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

Autor: Castañeda, Marisol Sampedro, Zanoteli, Edmar, Scalco, Renata S, Scaramuzzi, Vinicius, Caldas, Vitor Marques, Reed, Umbertina Conti, Silva, Andre Macedo Serafim da, O'Callaghan, Benjamin, Phadke, Rahul, Bugiardini, Enrico, Sampedro Castañeda, Marisol, Marques Caldas, Vitor, Conti Reed, Umbertina, da Silva, Andre Macedo Serafim, Sud, Richa, McCall, Samuel, Hanna, Michael G, Poulsen, Hanne, Männikkö, Roope, Matthews, Emma

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