TY - JOUR
T1 - Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
AU - Tiziano, Francesco Danilo
AU - Gurrieri, Fiorella
AU - Panagiotakaki, Eleni
AU - De Grandis, Elisa
AU - Stagnaro, Michela
AU - Heinzen, Erin L.
AU - Fons, Carmen
AU - Sisodiya, Sanjay
AU - De Vries, Boukje
AU - Goubau, Christophe
AU - Weckhuysen, Sarah
AU - Kemlink, David
AU - Scheffer, Ingrid
AU - Lesca, Gaëtan
AU - Rabilloud, Muriel
AU - Klich, Amna
AU - Ramirez-Camacho, Alia
AU - Ulate-Campos, Adriana
AU - Campistol, Jaume
AU - Giannotta, Melania
AU - Moutard, Marie-Laure
AU - Doummar, Diane
AU - Hubsch-Bonneaud, Cecile
AU - Jaffer, Fatima
AU - Cross, Helen
AU - Nevsimalova, Sona
AU - Nicole, Sophie
AU - Neville, Brian
AU - Van Den Maagdenberg, Arn M. J. M.
AU - Mikati, Mohamad
AU - Goldstein, David B.
AU - Vavassori, Rosaria
AU - Arzimanoglou, Alexis
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
KW - inglese
KW - inglese
UR - http://hdl.handle.net/10807/71913
U2 - 10.1186/s13023-015-0335-5
DO - 10.1186/s13023-015-0335-5
M3 - Article
VL - 10
SP - 123
EP - 123
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
ER -