Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood--a study o...
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood--a study of 155 patients
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Author / Creator
Panagiotakaki, Eleni , De Grandis, Elisa , Stagnaro, Michela , Heinzen, Erin L , Fons, Carmen , Sisodiya, Sanjay , de Vries, Boukje , Goubau, Christophe , Weckhuysen, Sarah , Kemlink, David , Scheffer, Ingrid , Lesca, Gaëtan , Rabilloud, Muriel , Klich, Amna , Ramirez-Camacho, Alia , Ulate-Campos, Adriana , Campistol, Jaume , Giannotta, Melania , Moutard, Marie-Laure , Doummar, Diane , Hubsch-Bonneaud, Cecile , Jaffer, Fatima , Cross, Helen , Gurrieri, Fiorella , Tiziano, Danilo , Nevsimalova, Sona , Nicole, Sophie , Neville, Brian , van den Maagdenberg, Arn M. J. M , Mikati, Mohamad , Goldstein, David B , Vavassori, Rosaria , Arzimanoglou, Alexis and ,
Publisher
BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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. Clinical data from an internatio...
Alternative Titles
Full title
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood--a study of 155 patients
Authors, Artists and Contributors
Author / Creator
De Grandis, Elisa
Stagnaro, Michela
Heinzen, Erin L
Fons, Carmen
Sisodiya, Sanjay
de Vries, Boukje
Goubau, Christophe
Weckhuysen, Sarah
Kemlink, David
Scheffer, Ingrid
Lesca, Gaëtan
Rabilloud, Muriel
Klich, Amna
Ramirez-Camacho, Alia
Ulate-Campos, Adriana
Campistol, Jaume
Giannotta, Melania
Moutard, Marie-Laure
Doummar, Diane
Hubsch-Bonneaud, Cecile
Jaffer, Fatima
Cross, Helen
Gurrieri, Fiorella
Tiziano, Danilo
Nevsimalova, Sona
Nicole, Sophie
Neville, Brian
van den Maagdenberg, Arn M. J. M
Mikati, Mohamad
Goldstein, David B
Vavassori, Rosaria
Arzimanoglou, Alexis
,
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_gale_infotracmisc_A541563075
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A541563075
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-015-0335-5
