Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of...
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
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Author / Creator
International AHC Consortium , Italian IBAHC Consortium , French AHC Consortium , The French AHC Consortium , The Italian IBAHC Consortium , The International AHC Consortium , 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 and Arzimanoglou, Alexis
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: 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 interna...
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
Italian IBAHC Consortium
French AHC Consortium
The French AHC Consortium
The Italian IBAHC Consortium
The International AHC Consortium
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4583741
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4583741
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-015-0335-5
