Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Francesco Danilo Tiziano; Fiorella Gurrieri; Eleni Panagiotakaki; Elisa De Grandis; Michela Stagnaro; Erin L. Heinzen; Carmen Fons; Sanjay Sisodiya; Boukje De Vries; Christophe Goubau; Sarah Weckhuysen; David Kemlink; Ingrid Scheffer; Gaëtan Lesca; Muriel Rabilloud; Amna Klich; Alia Ramirez-Camacho; Adriana Ulate-Campos; Jaume Campistol; Melania Giannotta; Marie-Laure Moutard; Diane Doummar; Cecile Hubsch-Bonneaud; Fatima Jaffer; Helen Cross; Sona Nevsimalova; Sophie Nicole; Brian Neville; Arn M. J. M. Van Den Maagdenberg; Mohamad Mikati; David B. Goldstein; Rosaria Vavassori; Alexis Arzimanoglou

doi:10.1186/s13023-015-0335-5

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Francesco Danilo Tiziano, Fiorella Gurrieri, Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay Sisodiya, Boukje De Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramirez-Camacho, Adriana Ulate-Campos, Jaume Campistol, Melania GiannottaMarie-Laure Moutard, Diane Doummar, Cecile Hubsch-Bonneaud, Fatima Jaffer, Helen Cross, Sona Nevsimalova, Sophie Nicole, Brian Neville, Arn M. J. M. Van Den Maagdenberg, Mohamad Mikati, David B. Goldstein, Rosaria Vavassori, Alexis Arzimanoglou

Risultato della ricerca: Contributo in rivista › Articolo in rivista

80 Citazioni (Scopus)

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.

Lingua originale	English
pagine (da-a)	123-123
Numero di pagine	1
Rivista	Orphanet Journal of Rare Diseases
Volume	10
DOI	https://doi.org/10.1186/s13023-015-0335-5
Stato di pubblicazione	Pubblicato - 2015

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Tiziano, F. D., Gurrieri, F., Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., 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., ... Arzimanoglou, A. (2015). Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. Orphanet Journal of Rare Diseases, 10, 123-123. https://doi.org/10.1186/s13023-015-0335-5

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title = "Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients",

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.",

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author = "Tiziano, {Francesco Danilo} and Fiorella Gurrieri and Eleni Panagiotakaki and {De Grandis}, Elisa and Michela Stagnaro and Heinzen, {Erin L.} and Carmen Fons and Sanjay Sisodiya and {De Vries}, Boukje and Christophe Goubau and Sarah Weckhuysen and David Kemlink and Ingrid Scheffer and Ga{\"e}tan Lesca and Muriel Rabilloud and Amna Klich and Alia Ramirez-Camacho and Adriana Ulate-Campos and Jaume Campistol and Melania Giannotta and Marie-Laure Moutard and Diane Doummar and Cecile Hubsch-Bonneaud and Fatima Jaffer and Helen Cross and Sona Nevsimalova and Sophie Nicole and Brian Neville and {Van Den Maagdenberg}, {Arn M. J. M.} and Mohamad Mikati and Goldstein, {David B.} and Rosaria Vavassori and Alexis Arzimanoglou",

year = "2015",

doi = "10.1186/s13023-015-0335-5",

language = "English",

volume = "10",

pages = "123--123",

journal = "Orphanet Journal of Rare Diseases",

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publisher = "London : BioMed Central",

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Tiziano, FD, Gurrieri, F, Panagiotakaki, E, De Grandis, E, Stagnaro, M, Heinzen, EL, 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-L, Doummar, D, Hubsch-Bonneaud, C, Jaffer, F, Cross, H, Nevsimalova, S, Nicole, S, Neville, B, Van Den Maagdenberg, AMJM, Mikati, M, Goldstein, DB, Vavassori, R & Arzimanoglou, A 2015, 'Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients', Orphanet Journal of Rare Diseases, vol. 10, pagg. 123-123. https://doi.org/10.1186/s13023-015-0335-5

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

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 -

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

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