Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype.
Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E., Fons, C., Sisodiya, S., De Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez Camacho, A., Ulate Campos, A., Campistol, J., Giannotta, M., Moutard, M., Doummar, D., Hubsch Bonneaud, C., Jaffer, F., Cross, H., Gurrieri, F., Tiziano, F. D., Nevsimalova, S., Nicole, S., Neville, B., Van Den Maagdenberg, A., Mikati, M., Goldstein, D., Vavassori, R., Arzimanoglou, A., Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients, <<ORPHANET JOURNAL OF RARE DISEASES>>, 2015; 10 (N/A): 123-123. [doi:10.1186/s13023-015-0335-5] [http://hdl.handle.net/10807/71913]
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
Gurrieri, Fiorella;Tiziano, Francesco Danilo;
2015
Abstract
Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype.
| File | Dimensione | Formato | |
|---|---|---|---|
|
71913oa.pdf
accesso aperto
Tipologia file ?:
Versione Editoriale (PDF)
Licenza:
Creative commons
Dimensione
1.01 MB
Formato
Unknown
|
1.01 MB | Unknown | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
