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.
Inglese
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]
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